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Complete androgen insensitivity syndrome with Sertoli cell tumour in a 27-year-old married woman: a case report

Complete androgen insensitivity syndrome with Sertoli cell tumour in a 27-year-old married woman:... Background Androgen insensitivity syndrome is a rare X‑linked disorder of sex development that results from muta‑ tions in the androgen receptors leading to failure of normal masculinization of the external genitalia in genetically male individuals. Our aim was to report this rare case of complete androgen insensitivity syndrome with Sertoli cell tumour, and our objective was to relate our experience on the challenges of the case and its successful management of the case. Case presentation We report a case of a 27‑ year‑ old married Nigerian woman who presented at the surgical outpatient of our centre with a complaint of primary amenorrhea. She had an attendant history of coital difficulty fol‑ lowing marriage. Clinical examination revealed a female phenotype with left groin swelling. A diagnosis of complete androgen insensitivity syndrome was made following hormonal evaluation, advanced imaging studies, karyotyping, and cytogenetic study. She and her parents including her husband were duly counselled on the natural history and principles of treatment of this clinical condition. She subsequently had a bilateral orchidectomy, and she was placed on oestrogen replacement therapy as well as serial vaginal dilation. The outcome was satisfactory. Conclusion We reported a rare case of complete androgen insensitivity syndrome in a married woman. We docu‑ mented our experience with successful conservative vaginal dilatation, which allowed satisfactory vaginal sexual intercourse. Keywords Androgen insensitivity syndrome (AIS), Disorder of Sex Development (DSD), Complete androgen insensitivity syndrome (CAIS) *Correspondence: Department of Radiology, Olabisi Onabanjo University Teaching Najeem Adedamola Idowu Hospital, Sagamu, Nigeria idowunajeem0@gmail.com Department of Chemical Pathology, University of Ilorin Teaching Department of Anatomic Pathology, Federal Medical Centre, Birnin Hospital, Ilorin, Nigeria Kudu, Jigawa, Nigeria Department of Radiology, University College Hospital, Ibadan, Nigeria Department of Anatomic Pathology, University of Ilorin Teaching Hospital, Ilorin, Kwara, Nigeria Department of Surgery, Ladoke Akintola University of Technology, Ogbomosho, Oyo, Nigeria Department of Morbid Anatomy and Histopathology, Ladoke Akintola University of Technology, Ogbomosho, Nigeria Department of Haematology and Blood Transfusion, Obafemi Awolowo University, Teaching Hospitals, Complex, Ife, Osun, Nigeria Department of Radiology, Federal Medical Centre, EbuteMetta, Lagos, Nigeria © The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http:// creat iveco mmons. org/ licen ses/ by/4. 0/. Rasheed et al. African Journal of Urology (2023) 29:26 Page 2 of 6 height and weight were 1.76 m and 60.5 kg, respectively. 1 Introduction The pelvic sonogram was suggestive of the rudimentary Androgen insensitivity syndrome (AIS) is a cause of a dis- uterus (Fig.  1). This, however, necessitated magnetic order of sex development (DSD) in which the genetic sex resonance imaging (MRI) that demonstrated the pres- or gonadal sex or phenotypical sex is atypical [1]. Andro- ence of the left and right inguinal gonads which meas- gen insensitivity is characterized by end-organ resist- ures 2.7 × 1.3 × 1.8  cm and 2.4 × 1.4 × 1.9, respectively, as ance to androgen where normal male development of demonstrated in Fig.  2b. The axial T2W MRI of the pel - the individual with 46XY karyotype is prevented [2]. It is vis shows the absence of pelvic organs such as the uterus the most common cause of DSD [3]. AIS is a rare disease and ovaries as shown in Fig.  2a. Thus, sagittal T2W with an estimated prevalence of 1 in 100,000 individuals. MRI also demonstrates similar findings as illustrated The degree of androgen unresponsiveness of this condi - in Fig.  2c. The hormonal evaluation revealed luteiniz - tion ranges from mild androgen insensitivity syndrome ing hormone (LH)—28.3Miu/ml, follicular-stimulating (MAIS), partial androgen insensitivity syndrome (PAIS) hormone (FSH)—4.4Miu/ml, prolactin—21.5  ng/ml, to complete androgen insensitivity syndrome (CAIS) oestradiol—35  pg/ml, progesterone—0.1  ng/ml and tes- [4]. AIS is an X-linked recessive genetic disorder that tosterone—5.2(0.2–0.95  ng/ml). Karyotyping was done is a result of a mutation in the androgen receptor gene by extracting DNA from the patient’s peripheral blood (Xq11-q12) [5]. The diagnosis of CAIS is made following sample using the ZymoResaerch Quick-DNA Miniprep hormonal evaluation, imaging, and genetic studies [6, 7]. kit; PCR was done with a pair of the sex-determining The principles involved in the management of cases of regions on the Y chromosome (SRY) forward (tacaggc- CAIS include gender assignment which more often than catgcacagagag) and reverse (tcttgagtgtgtggctttcg) prim- not, who are raised as females, delayed vs. early gona- ers and tag DNA revealed XY. Appropriate positive and dectomy to prevent the risk of malignancy, oestrogen negative controls were used. Electrophoresis of the PCR replacement therapy to maintain secondary sexual char- product was done in 2% agarose gels, and the bands were acteristics, bone and cardiovascular health [4]. The other visualized under UV light. This established the diagnosis part of the treatment principles are provision for satisfac- of complete androgen insensitivity syndrome (Fig. 3a and tory vaginal intercourse either by serial vaginal dilation bs). Although Mayer–Rokitansky syndrome was initially or by vaginal reconstruction and reproduction, which is entertained before karyotyping. Full blood count, electro- limited to either adoption or surrogacy via donor oocytes lyte urea and creatinine, and intravenous urography were [8]. Few cases of CAIS have been reported in the litera- clinically unremarkable. A multidisciplinary team meet- ture [9]. In Nigeria, a case of CAIS was reported in Benin ing involving the patient and relatives, urologist, psychi- [10]. This is the first case of DSD in our hospital and per - atrist, obstetrician, and gynaecologist was held, and the haps second reported case in Nigeria. Our aim was to patient including her relative was duly counselled on the report this rare case of complete androgen insensitivity diagnosis and management of this clinical condition. She syndrome with Sertoli cell tumour, and our objective was had left inguinal orchidectomy and right transperitoneal to relate our experience on the challenges of the case and its successful management of the case. 2 Case presentation We present a case of a 27-year-old married Nigerian woman with a complaint of primary amenorrhea and eight month’s history of coital difficulty. Her pregnancy and neonatal history were unremarkable. She was ini- tially not worried about her lack of menstruation as she was told it was familiar until shortly after her marriage when she noticed her husband could not fully penetrate with attendant dyspareunia and reflux of ejaculates. She had no history of urinary symptoms and no history of cyclical abdominal pain. There was no family history of similar problems. Clinical examination revealed well- developed breasts (tanner stage iii), absence of axillary hair, paucity of pubic hair, bilateral groin swellings, and female external genitalia that was characterized by blind Fig. 1 Transvaginal sonogram demonstrating what looked like a rudimentary uterus ending vaginal of 5 cm in length and 4 cm in width. Her R asheed et al. African Journal of Urology (2023) 29:26 Page 3 of 6 orchidectomy as shown in Fig.  4a, b and c, including the histomicrographs. The histology of the gonads revealed a Sertoli cell tumour, sclerosing variant (Fig.  4b and c), without any evidence of invasive disease. She was placed on oral oestrogen replacement therapy in the form of estroprogestinic therapy a pill/day (oral contraceptive pill) and serial self-vaginal dilatation using plastic vaginal dilators after she was thought. Her vaginal now measured 8  cm by 6  cm. She now enjoys satisfactory vagina inter- course and her secondary sexual feature is maintained. There was no clinical or radiological evidence of bone or cardiovascular disease. The patient and her husband are currently working on the adoption of a child. 3 Discussion The management of an individual with CAIS is very chal - lenging. The areas of concern are gender assignment, the timing of gonadectomy, the mode of oestrogen replace- ment therapy, satisfactory vaginal intercourse, and reproduction [11]. This case report illustrated that a mul - tidisciplinary team approach was required for a satisfac- tory outcome. Our patient presented late with primary amenorrhea and coital difficulty although patients with CAIS are expected to seek medical help as soon as they reach the age of puberty without menstruation. Some of the patients with CAIS may also be seen early in the hos- pital when it is associated with visible groin swelling [12]. This was not the case in our patient as the groin swell - ings were only detected on examination at presentation. This may be the reason for the delay. It may also be due to the poor health-seeking behaviour that is rampant in our environment. The patient’s height was 1.76 m. This is above the average height for African women, which has been anecdotally reported to be between 1.58 and 1.64 m [13]. The relatively higher height observed in this case may not be unconnected to the presence of Y chromo- some in patients with CAIS [14]. Our patient had well- developed breasts, which are not unusual in patients with this condition. The breast development was a result of peripheral aromatization of androgen to oestradiol. There was, however, paucity of pubic and axillary hair. This is due to the androgen unresponsiveness that char - acterizes CAIS. Magnetic resonance imaging confirmed the absence of Mullerian structures (uterus, tube, ovary and upper part of the vagina). The computed tomography (CT scan) of the abdomen showed the presence of left inguinal gonads, while the right gonads were obscured. Fig. 2 a Axial T2W MRI of the pelvis showed an absent uterus and Both testes were, however, found intra-operatively. ovaries, b Coronal pelvic MRI demonstrating the presence of left and The left was seen in the groin, while the right was seen right inguinal gonads with an arrow, and the absence of Mullerian in the abdomen. This lays credence to the low sensitiv - structures. c Sagittal T2W MRI showing absent uterus and ovaries ity of CT scans in locating intra-abdominal testes as it was also noted by some researchers [15]. The presence of testes indicated the secretion of Mullerian inhibiting Rasheed et al. African Journal of Urology (2023) 29:26 Page 4 of 6 Fig. 3 a The arrow in the photomicrograph indicates XY chromosomes. b Polymerase chain reaction sex‑ determining region Y(SRY ) protein gel product confirming the absence of X gene hormone, which results in Mullerian structures agenesis. suggestive feature of the uterus following a pelvic sono- The lower part of the vaginal is present because this is gram. This differential was dropped following the results embryologically derived from the urogenital sinus [16]. of pelvic MRI and karyotyping. The hormonal evaluation Cases of complete androgen insensitivity syndrome with result of our patient is in keeping with the normal limit persistent Mullerian structures are very rare. Some have for a normal male individual as our patient is genetically been reported in the literature [9]. This is different from male [18]. The diagnosis of CAIS is confirmed by the Mayer–Rokitansky–Kuster–Hauser syndrome in which identification of an androgen receptor gene mutation [4]. there is a primary amenorrhea with the presence of This was, however, not done in our patient due to non- Mullerian structures in a genetically XX individual [17]. availability. The time of gonadectomy was not a challenge This was initially entertained in our patient because of a for our patient as she had already attained secondary R asheed et al. African Journal of Urology (2023) 29:26 Page 5 of 6 Fig. 4 a. The macrograph of right and left testes as seen intra‑ operatively. b x100Magnification. The above histologic section shows tumour tissue with histological features that are consistent with the Sertoli cell tumour. It is arranged in tubule and glandular patterns and surrounded by the basement membrane. c. × 400.Magnification. The above histologic section shows a Sertoli cell tumour (sclerosing variant). It is arranged in tubule and glandular patterns and surrounded by the basement membrane sexual characteristics at presentation. The presence of the available and sustainable in our environment. Although Sertoli cell tumour sclerosing variant on histology, which this oral pill has progestin in addition to oestrogen, it has is a risk factor for testicular cancer apart from spermato- not been shown to be of any additional benefit since the cytic seminoma, is a shred of evidence that patients with cases of CAIS do not have a uterus. She is still on oral CAIS are at risk of testicular malignancy [19]. Notably, oestrogen replacement therapy, which she will be taking this tumour is often seen in a patient with CAIS [19]. until menopause. Some other similar series have reported The risk is said to be higher in post-pubertal patients the use of other formulations of oestrogen as hormone [20] as we observed in our case. This observation may replacement therapy with a good outcomes. support delayed orchidectomy to allow for the develop- ment of secondary sexual characteristics in patients with 4 Conclusion CAIS. Our patient did well following serial vaginal dilata- We reported a rare case of complete androgen insensitiv- tion as her vaginal depth improved from 5.0 cm × 4.0  cm ity syndrome in a married woman. We documented our to 8.0  cm × 6.0  cm. This is closer to the average vaginal experience with successful conservative vaginal dilata- length in normal individuals [21]. Her secondary sexual tion, which allowed satisfactory vaginal sexual inter- features and bone and cardiovascular health are good course. Gonadectomy can be delayed to allow for natural following bilateral total orchidectomy and hormone puberty. Oral contraceptive pills are a good alternative replacement therapy (HRT). The protocol for oestrogen for hormone replacement therapy in patients with CAIS. replacement therapy following orchidectomy has not We also illustrated the role of the multidisciplinary team been uniformly established. We considered estroproges- approach in managing this condition. There is a need for tinic therapy (oral contraceptive pill) because it is readily government to make comprehensive newborn genetic Rasheed et al. African Journal of Urology (2023) 29:26 Page 6 of 6 4. Hughes IA, Werner R, Bunch T, Hiort O (2012) Androgen insensitivity syn‑ screening available to all newborns to prevent the psy- drome. Seminars in reproductive medicine: Thieme Medical Publishers chological problem attached to its discovery at an older 5. Touzon MS, Garrido NP, Marino R, Ramirez P, Costanzo M, Guercio G et al age and its attendant marital complications. (2019) Androgen insensitivity syndrome: clinical phenotype and molecu‑ lar analysis in a single tertiary center cohort. J Clin Res Pediatr Endocrinol 11(1):24 6. Gottlieb B, Trifiro MA (2017) Androgen insensitivity syndrome Abbreviations 7. Tadokoro‑ Cuccaro R, Hughes IA (2014) Androgen insensitivity syndrome. DSD Disorder of Sex Development Curr Opin Endocrinol Diabetes Obes 21(6):499–503 AIS Androgen insensitivity syndrome 8. Minto CL, Liao KL‑M, Conway GS, Creighton SM (2003) Sexual function CAIS Complete androgen insensitivity syndrome in women with complete androgen insensitivity syndrome. Fertil Steril PAIS Partial androgen insensitivity syndrome 80(1):157–164 MAIS Mild androgen insensitivity syndrome 9. Pizzo A, Laganà AS, Borrielli I, Dugo N (2013) Complete androgen insen‑ sitivity syndrome: a rare case of disorder of sex development. Case Rep Acknowledgements Obstet Gynecol. https:// doi. org/ 10. 1155/ 2013/ 232696 Not applicable. 10. Menakaya U, Aligbe J, Iribhogbe P, Agoreyo F, Okonofua F (2005) Com‑ plete androgen insensitivity syndrome with persistent Mullerian deriva‑ Author contributions tives: a case report. J Obstet Gynaecol 25(4):403–405 The list of authors’ contributions, credits, and other information are as follows: 11. Hughes IA, Deeb A (2006) Androgen resistance. Best Pract Res Clin Endo‑ MWR was involved in conception and design of the work; data acquisition; crinol Metab 20(4):577–598 data analysis, and interpretation of data for the work; drafting the work and 12. Farah S, El Masri D, Hirbli K (2021) Complete androgen insensitivity revising it critically for important intellectual content; manuscript prepara‑ syndrome in a 13‑ year‑ old Lebanese child, reared as female, with bilateral tion; final approval of the version to be published; and agreement to be inguinal hernia: a case report. J Med Case Rep 15(1):1–4 accountable for all aspects of the work in ensuring that questions related to 13. Akachi Y, Canning D (2007) The height of women in Sub‑Saharan Africa: the accuracy or integrity of any part of the work are appropriately investigated the role of health, nutrition, and income in childhood. Ann Hum Biol and resolved; NAI performed manuscript reviewing and editing; literature 34(4):397–410 review, editing and critical appraisal for intellectual content and final approval 14. Han T, Goswami D, Trikudanathan S, Creighton S, Conway G (2008) of the version to be published; AAA did literature review and critical reviewing, Comparison of bone mineral density and body proportions between editing for intellectual content; JOO done interpretation of the cytogenetic women with complete androgen insensitivity syndrome and women report for the work, drafting the work and revising it critically for important with gonadal dysgenesis. Eur J Endocrinol 159(2):179–186 intellectual content; LTO done review of CT scan, MRI and critical reviewing, 15. Shehata SM, Shehata SM, Baky Fahmy MA (2013) The intra‑abdominal editing for intellectual content; FOO did review of CT scan, MRI and critical testis: lessons from the past, and ideas for the future. Pediatric Surg Int. reviewing, editing for intellectual content FAO (review of chemical pathology 29(10):1039–1045 report and editing; ATO reported review of CT scan, MRI and critical reviewing, 16. Healey A (2010) Embryology of the female reproductive tract. In: Mann editing for intellectual content. GS, Blair JC, Garden AS (eds) Imaging of gynecological disorders in infants and children. Springer, pp 21–30 Funding 17. Valappil S, Chetan U, Wood N, Garden A (2012) Mayer–Rokitansky– No source of funds. Küster–Hauser syndrome: diagnosis and management. Obstet Gynaecol 14(2):93 Availability of data and materials 18. Galani A, Kitsiou‑ Tzeli S, Sofokleous C, Kanavakis E, Kalpini‑Mavrou A This is not applicable to this research work. (2008) Androgen insensitivity syndrome: clinical features and molecular defects. Hormones 7(3):217–229 Declarations 19. Cools M, Looijenga L (2017) Update on the pathophysiology and risk factors for the development of malignant testicular germ cell tumors in Ethics approval and consent to participate complete androgen insensitivity syndrome. Sex Dev 11(4):175–181 The need for ethical approval was waved by LAUTECH Teaching Hospital 20. Chaudhry S, Tadokoro‑ Cuccaro R, Hannema S, Acerini C, Hughes IA Ogbomoso Nigeria ethical review committee. (2017) Frequency of gonadal tumours in complete androgen insensitiv‑ ity syndrome (CAIS): a retrospective case‑series analysis. J Pediatric Urol. Consent for publication 13(5):498.e1‑ e6 Consent was obtained from the patient. 21. Given FT Jr, Muhlendorf IK, Browning GM (1993) Vaginal length and sexual function after colpopexy for complete uterovaginal eversion. Am J Competing interests Obstet Gynecol 169(2):284–288 All authors have declared no competing interest. Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in pub‑ Received: 17 January 2023 Accepted: 22 April 2023 lished maps and institutional affiliations. References 1. Hughes IA, Houk C, Ahmed SF, Lee PA, Society LWPE (2006) Consen‑ sus statement on management of intersex disorders. J Pediatric Urol. 2(3):148–162 2. Batista RL, Costa EMF, Rodrigues ADS, Gomes NL, Faria JA Jr, Nishi MY et al (2018) Androgen insensitivity syndrome: a review. Arch Endocrinol Metab. 62:227–235 3. Melo KF, Mendonça BB, Billerbeck AEC, Costa EM, Latronico AC, Arnhold IJ (2005) Androgen insensitivity syndrome: clinical, hormonal and molecu‑ lar analysis of 33 cases. Arq Bras Endocrinol Metab 49:87–97 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png African Journal of Urology Springer Journals

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Copyright © The Author(s) 2023
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Abstract

Background Androgen insensitivity syndrome is a rare X‑linked disorder of sex development that results from muta‑ tions in the androgen receptors leading to failure of normal masculinization of the external genitalia in genetically male individuals. Our aim was to report this rare case of complete androgen insensitivity syndrome with Sertoli cell tumour, and our objective was to relate our experience on the challenges of the case and its successful management of the case. Case presentation We report a case of a 27‑ year‑ old married Nigerian woman who presented at the surgical outpatient of our centre with a complaint of primary amenorrhea. She had an attendant history of coital difficulty fol‑ lowing marriage. Clinical examination revealed a female phenotype with left groin swelling. A diagnosis of complete androgen insensitivity syndrome was made following hormonal evaluation, advanced imaging studies, karyotyping, and cytogenetic study. She and her parents including her husband were duly counselled on the natural history and principles of treatment of this clinical condition. She subsequently had a bilateral orchidectomy, and she was placed on oestrogen replacement therapy as well as serial vaginal dilation. The outcome was satisfactory. Conclusion We reported a rare case of complete androgen insensitivity syndrome in a married woman. We docu‑ mented our experience with successful conservative vaginal dilatation, which allowed satisfactory vaginal sexual intercourse. Keywords Androgen insensitivity syndrome (AIS), Disorder of Sex Development (DSD), Complete androgen insensitivity syndrome (CAIS) *Correspondence: Department of Radiology, Olabisi Onabanjo University Teaching Najeem Adedamola Idowu Hospital, Sagamu, Nigeria idowunajeem0@gmail.com Department of Chemical Pathology, University of Ilorin Teaching Department of Anatomic Pathology, Federal Medical Centre, Birnin Hospital, Ilorin, Nigeria Kudu, Jigawa, Nigeria Department of Radiology, University College Hospital, Ibadan, Nigeria Department of Anatomic Pathology, University of Ilorin Teaching Hospital, Ilorin, Kwara, Nigeria Department of Surgery, Ladoke Akintola University of Technology, Ogbomosho, Oyo, Nigeria Department of Morbid Anatomy and Histopathology, Ladoke Akintola University of Technology, Ogbomosho, Nigeria Department of Haematology and Blood Transfusion, Obafemi Awolowo University, Teaching Hospitals, Complex, Ife, Osun, Nigeria Department of Radiology, Federal Medical Centre, EbuteMetta, Lagos, Nigeria © The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http:// creat iveco mmons. org/ licen ses/ by/4. 0/. Rasheed et al. African Journal of Urology (2023) 29:26 Page 2 of 6 height and weight were 1.76 m and 60.5 kg, respectively. 1 Introduction The pelvic sonogram was suggestive of the rudimentary Androgen insensitivity syndrome (AIS) is a cause of a dis- uterus (Fig.  1). This, however, necessitated magnetic order of sex development (DSD) in which the genetic sex resonance imaging (MRI) that demonstrated the pres- or gonadal sex or phenotypical sex is atypical [1]. Andro- ence of the left and right inguinal gonads which meas- gen insensitivity is characterized by end-organ resist- ures 2.7 × 1.3 × 1.8  cm and 2.4 × 1.4 × 1.9, respectively, as ance to androgen where normal male development of demonstrated in Fig.  2b. The axial T2W MRI of the pel - the individual with 46XY karyotype is prevented [2]. It is vis shows the absence of pelvic organs such as the uterus the most common cause of DSD [3]. AIS is a rare disease and ovaries as shown in Fig.  2a. Thus, sagittal T2W with an estimated prevalence of 1 in 100,000 individuals. MRI also demonstrates similar findings as illustrated The degree of androgen unresponsiveness of this condi - in Fig.  2c. The hormonal evaluation revealed luteiniz - tion ranges from mild androgen insensitivity syndrome ing hormone (LH)—28.3Miu/ml, follicular-stimulating (MAIS), partial androgen insensitivity syndrome (PAIS) hormone (FSH)—4.4Miu/ml, prolactin—21.5  ng/ml, to complete androgen insensitivity syndrome (CAIS) oestradiol—35  pg/ml, progesterone—0.1  ng/ml and tes- [4]. AIS is an X-linked recessive genetic disorder that tosterone—5.2(0.2–0.95  ng/ml). Karyotyping was done is a result of a mutation in the androgen receptor gene by extracting DNA from the patient’s peripheral blood (Xq11-q12) [5]. The diagnosis of CAIS is made following sample using the ZymoResaerch Quick-DNA Miniprep hormonal evaluation, imaging, and genetic studies [6, 7]. kit; PCR was done with a pair of the sex-determining The principles involved in the management of cases of regions on the Y chromosome (SRY) forward (tacaggc- CAIS include gender assignment which more often than catgcacagagag) and reverse (tcttgagtgtgtggctttcg) prim- not, who are raised as females, delayed vs. early gona- ers and tag DNA revealed XY. Appropriate positive and dectomy to prevent the risk of malignancy, oestrogen negative controls were used. Electrophoresis of the PCR replacement therapy to maintain secondary sexual char- product was done in 2% agarose gels, and the bands were acteristics, bone and cardiovascular health [4]. The other visualized under UV light. This established the diagnosis part of the treatment principles are provision for satisfac- of complete androgen insensitivity syndrome (Fig. 3a and tory vaginal intercourse either by serial vaginal dilation bs). Although Mayer–Rokitansky syndrome was initially or by vaginal reconstruction and reproduction, which is entertained before karyotyping. Full blood count, electro- limited to either adoption or surrogacy via donor oocytes lyte urea and creatinine, and intravenous urography were [8]. Few cases of CAIS have been reported in the litera- clinically unremarkable. A multidisciplinary team meet- ture [9]. In Nigeria, a case of CAIS was reported in Benin ing involving the patient and relatives, urologist, psychi- [10]. This is the first case of DSD in our hospital and per - atrist, obstetrician, and gynaecologist was held, and the haps second reported case in Nigeria. Our aim was to patient including her relative was duly counselled on the report this rare case of complete androgen insensitivity diagnosis and management of this clinical condition. She syndrome with Sertoli cell tumour, and our objective was had left inguinal orchidectomy and right transperitoneal to relate our experience on the challenges of the case and its successful management of the case. 2 Case presentation We present a case of a 27-year-old married Nigerian woman with a complaint of primary amenorrhea and eight month’s history of coital difficulty. Her pregnancy and neonatal history were unremarkable. She was ini- tially not worried about her lack of menstruation as she was told it was familiar until shortly after her marriage when she noticed her husband could not fully penetrate with attendant dyspareunia and reflux of ejaculates. She had no history of urinary symptoms and no history of cyclical abdominal pain. There was no family history of similar problems. Clinical examination revealed well- developed breasts (tanner stage iii), absence of axillary hair, paucity of pubic hair, bilateral groin swellings, and female external genitalia that was characterized by blind Fig. 1 Transvaginal sonogram demonstrating what looked like a rudimentary uterus ending vaginal of 5 cm in length and 4 cm in width. Her R asheed et al. African Journal of Urology (2023) 29:26 Page 3 of 6 orchidectomy as shown in Fig.  4a, b and c, including the histomicrographs. The histology of the gonads revealed a Sertoli cell tumour, sclerosing variant (Fig.  4b and c), without any evidence of invasive disease. She was placed on oral oestrogen replacement therapy in the form of estroprogestinic therapy a pill/day (oral contraceptive pill) and serial self-vaginal dilatation using plastic vaginal dilators after she was thought. Her vaginal now measured 8  cm by 6  cm. She now enjoys satisfactory vagina inter- course and her secondary sexual feature is maintained. There was no clinical or radiological evidence of bone or cardiovascular disease. The patient and her husband are currently working on the adoption of a child. 3 Discussion The management of an individual with CAIS is very chal - lenging. The areas of concern are gender assignment, the timing of gonadectomy, the mode of oestrogen replace- ment therapy, satisfactory vaginal intercourse, and reproduction [11]. This case report illustrated that a mul - tidisciplinary team approach was required for a satisfac- tory outcome. Our patient presented late with primary amenorrhea and coital difficulty although patients with CAIS are expected to seek medical help as soon as they reach the age of puberty without menstruation. Some of the patients with CAIS may also be seen early in the hos- pital when it is associated with visible groin swelling [12]. This was not the case in our patient as the groin swell - ings were only detected on examination at presentation. This may be the reason for the delay. It may also be due to the poor health-seeking behaviour that is rampant in our environment. The patient’s height was 1.76 m. This is above the average height for African women, which has been anecdotally reported to be between 1.58 and 1.64 m [13]. The relatively higher height observed in this case may not be unconnected to the presence of Y chromo- some in patients with CAIS [14]. Our patient had well- developed breasts, which are not unusual in patients with this condition. The breast development was a result of peripheral aromatization of androgen to oestradiol. There was, however, paucity of pubic and axillary hair. This is due to the androgen unresponsiveness that char - acterizes CAIS. Magnetic resonance imaging confirmed the absence of Mullerian structures (uterus, tube, ovary and upper part of the vagina). The computed tomography (CT scan) of the abdomen showed the presence of left inguinal gonads, while the right gonads were obscured. Fig. 2 a Axial T2W MRI of the pelvis showed an absent uterus and Both testes were, however, found intra-operatively. ovaries, b Coronal pelvic MRI demonstrating the presence of left and The left was seen in the groin, while the right was seen right inguinal gonads with an arrow, and the absence of Mullerian in the abdomen. This lays credence to the low sensitiv - structures. c Sagittal T2W MRI showing absent uterus and ovaries ity of CT scans in locating intra-abdominal testes as it was also noted by some researchers [15]. The presence of testes indicated the secretion of Mullerian inhibiting Rasheed et al. African Journal of Urology (2023) 29:26 Page 4 of 6 Fig. 3 a The arrow in the photomicrograph indicates XY chromosomes. b Polymerase chain reaction sex‑ determining region Y(SRY ) protein gel product confirming the absence of X gene hormone, which results in Mullerian structures agenesis. suggestive feature of the uterus following a pelvic sono- The lower part of the vaginal is present because this is gram. This differential was dropped following the results embryologically derived from the urogenital sinus [16]. of pelvic MRI and karyotyping. The hormonal evaluation Cases of complete androgen insensitivity syndrome with result of our patient is in keeping with the normal limit persistent Mullerian structures are very rare. Some have for a normal male individual as our patient is genetically been reported in the literature [9]. This is different from male [18]. The diagnosis of CAIS is confirmed by the Mayer–Rokitansky–Kuster–Hauser syndrome in which identification of an androgen receptor gene mutation [4]. there is a primary amenorrhea with the presence of This was, however, not done in our patient due to non- Mullerian structures in a genetically XX individual [17]. availability. The time of gonadectomy was not a challenge This was initially entertained in our patient because of a for our patient as she had already attained secondary R asheed et al. African Journal of Urology (2023) 29:26 Page 5 of 6 Fig. 4 a. The macrograph of right and left testes as seen intra‑ operatively. b x100Magnification. The above histologic section shows tumour tissue with histological features that are consistent with the Sertoli cell tumour. It is arranged in tubule and glandular patterns and surrounded by the basement membrane. c. × 400.Magnification. The above histologic section shows a Sertoli cell tumour (sclerosing variant). It is arranged in tubule and glandular patterns and surrounded by the basement membrane sexual characteristics at presentation. The presence of the available and sustainable in our environment. Although Sertoli cell tumour sclerosing variant on histology, which this oral pill has progestin in addition to oestrogen, it has is a risk factor for testicular cancer apart from spermato- not been shown to be of any additional benefit since the cytic seminoma, is a shred of evidence that patients with cases of CAIS do not have a uterus. She is still on oral CAIS are at risk of testicular malignancy [19]. Notably, oestrogen replacement therapy, which she will be taking this tumour is often seen in a patient with CAIS [19]. until menopause. Some other similar series have reported The risk is said to be higher in post-pubertal patients the use of other formulations of oestrogen as hormone [20] as we observed in our case. This observation may replacement therapy with a good outcomes. support delayed orchidectomy to allow for the develop- ment of secondary sexual characteristics in patients with 4 Conclusion CAIS. Our patient did well following serial vaginal dilata- We reported a rare case of complete androgen insensitiv- tion as her vaginal depth improved from 5.0 cm × 4.0  cm ity syndrome in a married woman. We documented our to 8.0  cm × 6.0  cm. This is closer to the average vaginal experience with successful conservative vaginal dilata- length in normal individuals [21]. Her secondary sexual tion, which allowed satisfactory vaginal sexual inter- features and bone and cardiovascular health are good course. Gonadectomy can be delayed to allow for natural following bilateral total orchidectomy and hormone puberty. Oral contraceptive pills are a good alternative replacement therapy (HRT). The protocol for oestrogen for hormone replacement therapy in patients with CAIS. replacement therapy following orchidectomy has not We also illustrated the role of the multidisciplinary team been uniformly established. We considered estroproges- approach in managing this condition. There is a need for tinic therapy (oral contraceptive pill) because it is readily government to make comprehensive newborn genetic Rasheed et al. African Journal of Urology (2023) 29:26 Page 6 of 6 4. Hughes IA, Werner R, Bunch T, Hiort O (2012) Androgen insensitivity syn‑ screening available to all newborns to prevent the psy- drome. Seminars in reproductive medicine: Thieme Medical Publishers chological problem attached to its discovery at an older 5. Touzon MS, Garrido NP, Marino R, Ramirez P, Costanzo M, Guercio G et al age and its attendant marital complications. (2019) Androgen insensitivity syndrome: clinical phenotype and molecu‑ lar analysis in a single tertiary center cohort. J Clin Res Pediatr Endocrinol 11(1):24 6. Gottlieb B, Trifiro MA (2017) Androgen insensitivity syndrome Abbreviations 7. Tadokoro‑ Cuccaro R, Hughes IA (2014) Androgen insensitivity syndrome. DSD Disorder of Sex Development Curr Opin Endocrinol Diabetes Obes 21(6):499–503 AIS Androgen insensitivity syndrome 8. Minto CL, Liao KL‑M, Conway GS, Creighton SM (2003) Sexual function CAIS Complete androgen insensitivity syndrome in women with complete androgen insensitivity syndrome. Fertil Steril PAIS Partial androgen insensitivity syndrome 80(1):157–164 MAIS Mild androgen insensitivity syndrome 9. Pizzo A, Laganà AS, Borrielli I, Dugo N (2013) Complete androgen insen‑ sitivity syndrome: a rare case of disorder of sex development. Case Rep Acknowledgements Obstet Gynecol. https:// doi. org/ 10. 1155/ 2013/ 232696 Not applicable. 10. Menakaya U, Aligbe J, Iribhogbe P, Agoreyo F, Okonofua F (2005) Com‑ plete androgen insensitivity syndrome with persistent Mullerian deriva‑ Author contributions tives: a case report. J Obstet Gynaecol 25(4):403–405 The list of authors’ contributions, credits, and other information are as follows: 11. Hughes IA, Deeb A (2006) Androgen resistance. Best Pract Res Clin Endo‑ MWR was involved in conception and design of the work; data acquisition; crinol Metab 20(4):577–598 data analysis, and interpretation of data for the work; drafting the work and 12. Farah S, El Masri D, Hirbli K (2021) Complete androgen insensitivity revising it critically for important intellectual content; manuscript prepara‑ syndrome in a 13‑ year‑ old Lebanese child, reared as female, with bilateral tion; final approval of the version to be published; and agreement to be inguinal hernia: a case report. J Med Case Rep 15(1):1–4 accountable for all aspects of the work in ensuring that questions related to 13. Akachi Y, Canning D (2007) The height of women in Sub‑Saharan Africa: the accuracy or integrity of any part of the work are appropriately investigated the role of health, nutrition, and income in childhood. Ann Hum Biol and resolved; NAI performed manuscript reviewing and editing; literature 34(4):397–410 review, editing and critical appraisal for intellectual content and final approval 14. Han T, Goswami D, Trikudanathan S, Creighton S, Conway G (2008) of the version to be published; AAA did literature review and critical reviewing, Comparison of bone mineral density and body proportions between editing for intellectual content; JOO done interpretation of the cytogenetic women with complete androgen insensitivity syndrome and women report for the work, drafting the work and revising it critically for important with gonadal dysgenesis. Eur J Endocrinol 159(2):179–186 intellectual content; LTO done review of CT scan, MRI and critical reviewing, 15. Shehata SM, Shehata SM, Baky Fahmy MA (2013) The intra‑abdominal editing for intellectual content; FOO did review of CT scan, MRI and critical testis: lessons from the past, and ideas for the future. Pediatric Surg Int. reviewing, editing for intellectual content FAO (review of chemical pathology 29(10):1039–1045 report and editing; ATO reported review of CT scan, MRI and critical reviewing, 16. Healey A (2010) Embryology of the female reproductive tract. In: Mann editing for intellectual content. GS, Blair JC, Garden AS (eds) Imaging of gynecological disorders in infants and children. Springer, pp 21–30 Funding 17. Valappil S, Chetan U, Wood N, Garden A (2012) Mayer–Rokitansky– No source of funds. Küster–Hauser syndrome: diagnosis and management. Obstet Gynaecol 14(2):93 Availability of data and materials 18. Galani A, Kitsiou‑ Tzeli S, Sofokleous C, Kanavakis E, Kalpini‑Mavrou A This is not applicable to this research work. (2008) Androgen insensitivity syndrome: clinical features and molecular defects. Hormones 7(3):217–229 Declarations 19. Cools M, Looijenga L (2017) Update on the pathophysiology and risk factors for the development of malignant testicular germ cell tumors in Ethics approval and consent to participate complete androgen insensitivity syndrome. Sex Dev 11(4):175–181 The need for ethical approval was waved by LAUTECH Teaching Hospital 20. Chaudhry S, Tadokoro‑ Cuccaro R, Hannema S, Acerini C, Hughes IA Ogbomoso Nigeria ethical review committee. (2017) Frequency of gonadal tumours in complete androgen insensitiv‑ ity syndrome (CAIS): a retrospective case‑series analysis. J Pediatric Urol. Consent for publication 13(5):498.e1‑ e6 Consent was obtained from the patient. 21. Given FT Jr, Muhlendorf IK, Browning GM (1993) Vaginal length and sexual function after colpopexy for complete uterovaginal eversion. Am J Competing interests Obstet Gynecol 169(2):284–288 All authors have declared no competing interest. Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in pub‑ Received: 17 January 2023 Accepted: 22 April 2023 lished maps and institutional affiliations. References 1. Hughes IA, Houk C, Ahmed SF, Lee PA, Society LWPE (2006) Consen‑ sus statement on management of intersex disorders. J Pediatric Urol. 2(3):148–162 2. Batista RL, Costa EMF, Rodrigues ADS, Gomes NL, Faria JA Jr, Nishi MY et al (2018) Androgen insensitivity syndrome: a review. Arch Endocrinol Metab. 62:227–235 3. Melo KF, Mendonça BB, Billerbeck AEC, Costa EM, Latronico AC, Arnhold IJ (2005) Androgen insensitivity syndrome: clinical, hormonal and molecu‑ lar analysis of 33 cases. Arq Bras Endocrinol Metab 49:87–97

Journal

African Journal of UrologySpringer Journals

Published: May 9, 2023

Keywords: Androgen insensitivity syndrome (AIS); Disorder of Sex Development (DSD); Complete androgen insensitivity syndrome (CAIS)

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