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


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