Cases Blog
First report of ambiguous genitalia in diabetic fetopathy
A recently
published article in Journal
of Medical Case Reports describes the case of an infant born to a 19-year-old Thai
woman with familial history of diabetes mellitus, which showed evidence of
diabetic fetopathy with classic facial malformation and ambiguous genitalia. Although maternal
diabetes is known to increase the risk of congenital malformations, this is the
first reported case of ambiguous genitalia. 
The infant died shortly after birth; the autopsy showed multiple facial anomalies including a prominent forehead, an absent nose, absent bilateral ears and a median cleft lip and palate. The most unusual finding was bilateral adrenal hyperplasia with ambiguous external genitalia, with clitoral hypertrophy and hyperpigmentation. Other anomalies found included preaxial polydactyly of the right hand, accessory spleens and a single umbilical artery.
Chromosomal
examination revealed the infant was female, (46, XX) with virilization of
female external genitalia. The uterus and both ovaries were in the normal
anatomical position.
Have you seen any
unusual complications arising from gestational diabetes? Share your
experience by posting a
comment on this case report, or submit a case report describing
what happened.
Posted by Emma Pettengale at 14:57 Comments (0)
