Case report
Diabetic fetopathy associated with bilateral adrenal hyperplasia and ambiguous genitalia: a case report
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* Corresponding author: Patou Tantbirojn two_devil@hotmail.com
1 Department of Obstetrics and Gynecology Faculty of Medicine, Chulalongkorn University, Rama IV road, Bangkok 10330, Thailand
2 Department of Pathology, Faculty of Medicine, Chulalongkorn University, Rama IV road, Bangkok 10330, Thailand
Journal of Medical Case Reports 2008, 2:251 doi:10.1186/1752-1947-2-251
Published: 25 July 2008Abstract
Introduction
Many fetal malformations can occur because of maternal diabetes. However, ambiguous genital organs have never been reported as an associated finding in the literature. This is the first report of associated ambiguous genital organ and bilateral adrenal hyperplasia in a case of diabetic fetopathy.
Case presentation
A 19-year-old Thai primigravida with familial history of diabetes mellitus (DM) was diagnosed as having gestational DM type 2, based on 100 g oral glucose tolerance test, and was poorly controlled with insulin injections. Delayed targeted ultrasonography at 28 weeks gestation revealed multiple fetal anomalies. The woman underwent low transverse cesarean section at 30 weeks gestation due to preterm labor and transverse lie. The newborn with ambiguous genitalia was delivered but expired after birth. Autopsy findings revealed alobar holoprosencephaly, a prominent forehead, hypotelorism, an absent nose, absent bilateral ears, median cleft lip and palate, preaxial polydactyly of the right hand, accessory spleens, single umbilical artery, markedly enlarged adrenal glands and ambiguous external genitalia The subsequent fetal chromosomal study revealed 46,XX.
Conclusion
We describe a case of diabetic fetopathy with classic facial malformation and preaxial hallucal polydactyly which has been proposed as a marker of diabetic embryopathy. Bilateral adrenal hyperplasia with ambiguous genitalia, an uncommon associated anomaly, was also identified. It is controversial whether adrenal hyperplasia can be a novel feature of diabetic fetopathy or just a coincidental finding. Further observation and adequate investigation are needed in such cases.