Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family
Author:
Alla Achwak1ORCID, Ongoth Farel Elilie Mawa1, Tahiri Abir1, Karrou Marouan1, Rouf Siham1, Benhaddou Houssain2, Kamaoui Imane3, Mcelreavey Kenneth4, Latrech Hanane15
Affiliation:
1. Department of Endocrinology-Diabetology, Mohammed VI University Hospital Centre, Faculty of Medicine and Pharmacy , Mohammed I University , Oujda , Morocco 2. Department of Pediatric Surgery, Mohammed VI University Hospital Centre, Faculty of Medicine and Pharmacy , Mohammed I University , Oujda , Morocco 3. Department of Radiology, Mohammed VI University Hospital Centre, Faculty of Medicine and Pharmacy , Mohammed I University , Oujda , Morocco 4. Human Development Genetics , Pasteur Institute , Paris , France 5. Laboratory of Epidemiology, clinical Research and Public health, Faculty of Medicine and Pharmacy , Mohammed I University , Oujda , Morocco
Abstract
Abstract
Objectives
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.
Case presentation
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.
Conclusions
Leydig cell hypoplasia is a rare form of disorder of sex development. We report the occurrence of a new mutation of the LHCGR gene in two Moroccan brothers in whom the clinical features and the molecular diagnosis were correlated.
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Reference16 articles.
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