Premium
Simpson–Golabi–Behmel syndrome with 46,XY disorders of sex development: A case report
Author(s) -
Fu Qian,
Wang Hui,
Qi Zhan,
Zhang Yaxin
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40669
Subject(s) - macrocephaly , organomegaly , gigantism , disorders of sex development , gynecomastia , medicine , pectus excavatum , pediatrics , endocrinology , anatomy , disease
We present a case of a Chinese child with X‐linked Simpson–Golabi–Behmel syndrome (SGBS). To the best of our knowledge, this is the first report of 46,XY disorders of sex development (ambiguous genitalia, cryptorchidism, and uterus in the pelvis) in surviving SGBS patients. Other external anomalies included characteristic facial anomalies, overgrowth, macrocephaly, organomegaly, pectus excavatum, and cryptorchidism. It could be that the GPC3 gene mutation caused Leydig cell dysfunction in our patient. Disorders of sex development can be included as part of the clinical spectrum of SGBS.