Central and gonadal hypogonadism in X-linked lissencephaly.
OBJECTIVE
To directly test gonadal function in a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) in light of lack of previous functional data.


RESULTS
We studied an infant who failed to increase testosterone levels in response to hCG stimulation.


CONCLUSIONS
In XLAG, the gonads are not only structurally dysgenetic but also functionally abnormal.
Halac
Isil
I
Pediatric Endocrinology, Children's Memorial Hospital, Northwestern University, Chicago, IL, USA. ihalac@childrensmemorial.org
Habiby
Reema
R
Curran
John
J
Zimmerman
Donald
D
D000015:Abnormalities, Multiple / Q000235:genetics; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D006063:Chorionic Gonadotropin / Q000494:pharmacology; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D005837:Genitalia, Male / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013739:Testosterone / Q000378:metabolism
D006063:Chorionic Gonadotropin; D013739:Testosterone