XX male syndrome

(redirected from De la Chapelle syndrome)
A rare autosomal recessive [MIM 278850] sex chromosome anomaly that clinically mimics Klinefelter syndrome
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

XX male syndrome

An AR sex chromosome anomaly that clinically mimics Klinefelter syndrome Clinical ♂ psychosexual orientation, masculine appearance, weak 2º sexual characteristics, azoospermia, ↓ androgen levels, small testes
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
A total of 30 metaphase chromosomes were analyzed and the results showed that the patient had 46 XX karyotype (Figure 1) known as de la Chapelle syndrome with no evidence of other structural/numerical chromosomal abnormalities including mosaicism.
Tia, 28, was bullied because she appeared male due to a rare condition known as de la Chapelle syndrome and was raised as a boy despite being female.