Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Kallmann syndrome
genetics
hypogonadotropic hypogonadism
male infertility
puberty
reproduction
reversible hypogonadism
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2022
2022
Historique:
received:
26
09
2022
accepted:
13
10
2022
entrez:
21
11
2022
pubmed:
22
11
2022
medline:
23
11
2022
Statut:
epublish
Résumé
Congenital hypogonadotropic hypogonadism (HH) is a heterogeneous genetic disorder characterized by disrupted puberty and infertility. In most cases, HH is abiding yet 10-15% undergo reversal. Men with HH and absent and partial puberty (i.e., testicular volume <4mL and >4mL respectively) have been well-studied, but the rare fertile eunuch (FE) variant remains poorly characterized. This natural history study of 240 men with HH delineates the clinical presentation, neuroendocrine profile, rate of reversal and genetics of the FE variant. We compared three HH groups: FE (n=38), absent puberty (n=139), and partial puberty (n=63). The FE group had no history of micropenis and 2/38 (5%) had cryptorchidism (
Identifiants
pubmed: 36407308
doi: 10.3389/fendo.2022.1054447
pmc: PMC9666691
doi:
Substances chimiques
Gonadotropins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1054447Subventions
Organisme : NICHD NIH HHS
ID : F32 HD108873
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD104224
Pays : United States
Organisme : NCATS NIH HHS
ID : R03 TR003533
Pays : United States
Organisme : NICHD NIH HHS
ID : R37 HD043341
Pays : United States
Informations de copyright
Copyright © 2022 Dwyer, Stamou, McDonald, Anghel, Cox, Salnikov, Plummer, Seminara and Balasubramanian.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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