Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (
LHCGR gene
Morocco
disorder of sexual differentiation
inactivating mutation
leydig cell hypoplasia
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
27 Sep 2022
27 Sep 2022
Historique:
received:
01
12
2021
accepted:
17
05
2022
pubmed:
8
6
2022
medline:
11
9
2022
entrez:
7
6
2022
Statut:
epublish
Résumé
We present the first cases of two male brothers with Leydig cell hypoplasia secondary to a novel mutation in the LHCGR gene that has never been described before. We report the case of two brothers with Leydig cell hypoplasia (LCH) type II caused by novel homozygous inactivating mutation of the LHCGR gene, located in exon 10 in c 947 position. The two patients presented at 11 years 7 months and 1 year 6 months, respectively, with abnormal sexual development, micropenis and cryptorchidism. Genetic analysis revealed a homozygous deletion of approximately 4 bp encompassing exon 10 of the LHR gene in the two brothers indicating autosomal recessive inheritance. An hCG stimulation test induced testosterone secretion within the normal range. Subsequently, a treatment with enanthate of testosterone was started, with an increase in the length of the penis. Leydig cell hypoplasia is a rare form of disorder of sex development. We report the occurrence of a new mutation of the
Identifiants
pubmed: 35670320
pii: jpem-2021-0717
doi: 10.1515/jpem-2021-0717
doi:
Substances chimiques
Receptors, LH
0
Testosterone
3XMK78S47O
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1215-1221Informations de copyright
© 2022 Walter de Gruyter GmbH, Berlin/Boston.
Références
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