Type II Leydig cell hypoplasia caused by LHCGR gene mutation: a case report

JIN Ke-Xin; SU Zhe; JIAO Yan-Hua; PAN Li-Li; JIANG Xian-Ping; YIN Jian-Chun; LI Jia-Qiang

doi:10.7499/j.issn.1008-8830.2410074

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Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (2) : 225-228. DOI: 10.7499/j.issn.1008-8830.2410074

CASE REPORT

Type II Leydig cell hypoplasia caused by LHCGR gene mutation: a case report

JIN Ke-Xin, SU Zhe, JIAO Yan-Hua, PAN Li-Li, JIANG Xian-Ping, YIN Jian-Chun, LI Jia-Qiang

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Abstract

The patient, assigned female at birth and aged 1 year and 7 months, presented with clinical manifestations of 46,XY disorders of sex development. The external genitalia exhibited a severely undermasculinized phenotype. Laboratory tests and gonadal biopsy indicated poor Leydig cell function and good Sertoli cell function. Genetic testing revealed compound heterozygous mutations of c.867-2A>C and c.547G>A (p.G183R) in the LHCGR gene. The patient was ultimately diagnosed with type II Leydig cell hypoplasia. Type II Leydig cell hypoplasia presents a broad spectrum of clinical phenotypes, characterized by a lack of parallel function between Leydig cells and Sertoli cells, and significant individual variability in spermatogenesis and gender assignment. This condition should be considered when there is poor Leydig cell function but good development of Wolffian duct derivatives.

Key words

Leydig cell hypoplasia / LHCGR gene / 46,XY disorders of sex development / Toddler

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JIN Ke-Xin, SU Zhe, JIAO Yan-Hua, PAN Li-Li, JIANG Xian-Ping, YIN Jian-Chun, LI Jia-Qiang. Type II Leydig cell hypoplasia caused by LHCGR gene mutation: a case report[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(2): 225-228 https://doi.org/10.7499/j.issn.1008-8830.2410074

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