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A Case-Based Guide to Clinical EndocrinologyCongenital Hypogonadotropic Hypogonadism

A Case-Based Guide to Clinical Endocrinology: Congenital Hypogonadotropic Hypogonadism [Endocrinologists are often asked to evaluate and manage teenage boys with delayed puberty. The differential diagnosis is broad and includes gonadal failure, chronic illness, constitutional delay, and gonadotropin deficiency. The latter can be associated with panhypopituitarism or can be selective. Isolated congenital hypogonadotropic hypogonadism (CHH) is likewise a heterogeneous disorder. Midline defects, including anosmia, cleft lip and palate, and synkinesia are found in roughly 50% of CHH patients, known as Kallmann syndrome, while the remainder have CHH but no developmental defects. There has been considerable progress in the past decade in understanding the molecular pathogenesis of CHH, and more than 50 genes have been implicated. These relatively uncommon patients have provided a substantial advance in our understanding of the neuroendocrine control of reproduction. Constitutional delay is far more common than CHH, and it can be difficult to distinguish the two disorders clinically although genetic testing for CHH is now commercially available. Testosterone treatment will normalize sexual development in men with CHH, but stimulation of spermatogenesis with gonadotropins, while most often successful, remains incomplete, and new approaches are being explored.] http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png

A Case-Based Guide to Clinical EndocrinologyCongenital Hypogonadotropic Hypogonadism

Editors: Davies, Terry F.
Winters, Stephen J.
A Case-Based Guide to Clinical Endocrinology — Jan 4, 2022
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References (17)

  • A Lettieri (2016)

    266

    Minerva Endocrinol, 41

  • SR Howard (2019)

    1285

    Endocr Rev, 40

  • RA Steiner (2013)

    3

    Adv Exp Med Biol, 784

  • MI Stamou (2015)

    603

    Endocr Rev, 36

  • GP Sykiotis (2010)

    15140

    Proc Natl Acad Sci U S A, 107

  • J Young (2019)

    669

    Endocr Rev, 40

  • U Boehm (2015)

    547

    Nat Rev Endocrinol, 11

  • M Xatzipsalti (2019)

    81

    Horm Metab Res, 51

  • LM Caronia (2011)

    215

    N Engl J Med, 364

  • L Chevrier (2011)

    21

    Mol Cell Endocrinol, 346

  • PE Forni (2015)

    165

    Front Neuroendocrinol, 36

  • C Martin (2011)

    225

    Endocr Rev, 32

  • AA Dwyer (2016)

    R267

    Eur J Endocrinol, 174

  • SB Seminara (1998)

    521

    Endocr Rev, 19

  • Y Zhao (2019)

    149

    Prog Mol Biol Transl Sci, 161

  • D Cassatella (2018)

    377

    Eur J Endocrinol, 178

  • R Balasubramanian (2010)

    81

    Neuroendocrinology, 92

Publisher
Springer International Publishing
Copyright
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2022
ISBN
978-3-030-84366-3
Pages
275 –287
DOI
10.1007/978-3-030-84367-0_31
Publisher site
See Chapter on Publisher Site

Abstract

[Endocrinologists are often asked to evaluate and manage teenage boys with delayed puberty. The differential diagnosis is broad and includes gonadal failure, chronic illness, constitutional delay, and gonadotropin deficiency. The latter can be associated with panhypopituitarism or can be selective. Isolated congenital hypogonadotropic hypogonadism (CHH) is likewise a heterogeneous disorder. Midline defects, including anosmia, cleft lip and palate, and synkinesia are found in roughly 50% of CHH patients, known as Kallmann syndrome, while the remainder have CHH but no developmental defects. There has been considerable progress in the past decade in understanding the molecular pathogenesis of CHH, and more than 50 genes have been implicated. These relatively uncommon patients have provided a substantial advance in our understanding of the neuroendocrine control of reproduction. Constitutional delay is far more common than CHH, and it can be difficult to distinguish the two disorders clinically although genetic testing for CHH is now commercially available. Testosterone treatment will normalize sexual development in men with CHH, but stimulation of spermatogenesis with gonadotropins, while most often successful, remains incomplete, and new approaches are being explored.]

Published: Jan 4, 2022

Keywords: Kallmann syndrome; Delayed puberty; Hypogonadism; Infertility; GnRH deficiency

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