Background: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene can produce LCH. In this poster, we present three siblings with LCH based on the clinical and laboratory findings and the molecular diagnosis.
Cases: A seven-year-old child was brought to our hospital for inguinal gonads. Physical examination was characterized by a predominantly female phenotype, a blind-ending vagina, and no Mullerian structures. Chromosomal analysis revealed 46 XX karyotype. SRY gene was normal. The sequence analysis of the LHCGR gene showed a homozygous mutation (p.A483D c.1448C>A). When other siblings were examined, they were found to have the similar physical findings and the same genetic abnormality.
Conclusion: We identified a homozygous mutation in the LHCGR gene. The variable phenotype in LCH suggested variable expressivity of the disease.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology