ESPE Abstracts (2019) 92 P3-235

Leydig Cell Hypoplasia in Three Siblings in the Same Family

Hakan Doneray1, Ayse Ozden1, Omer Yakar2

1Ataturk University Faculty of Medicine Department of Pediatric Endocrinology, Erzurum, Turkey. 2Ataturk University Faculty of Medicine Department of Medical Genetics, Erzurum, Turkey

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.

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