当前位置： SCI文献检索 > Taiwanese Journal of Obstetrics & Gynecology期刊下所有文献 > Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother.

Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother.

Abstract：

OBJECTIVE:Coexistence of Klinefelter syndrome and holoprosencephaly (HPE) is rare. We report alobar HPE, cebocephaly, and micropenis in a Klinefelter fetus of a mother with type 2 diabetes mellitus with obesity and poor metabolic control. CASE REPORT:A 38-year-old woman was referred for therapy of type 2 diabetes mellitus with poor glycemic control at 24 weeks of gestation. On examination, she had a body height of 162 cm and a body weight of 105 kg. She had been treated with oral medication for diabetes mellitus for 4 years with poor maternal metabolic control. She had prominent glucosuria and glycemia. Her hemoglobin A1c was 7.5% (normal range: 3.4-6.1%), and the fasting glucose level was 141 mg/mL (normal range: 70-99 mg/mL) during this visit. Her husband was 46 years old. Prenatal ultrasound revealed a singleton fetus with fetal biometry equivalent to 24 weeks, alobar HPE, cebocephaly, and micropenis. As a result of poor maternal heath and fetal anomaly, the parents elected to terminate the pregnancy, and a 986-g male fetus was delivered with hypotelorism, HPE, cebocephaly, micropenis, and cryptorchidism. Cytogenetic analysis of the cord blood revealed a karyotype of 47,XXY. The parental karyotypes were normal. Polymorphic DNA analysis revealed a paternal origin of the extra X chromosome. Molecular analysis of the HPE genes of SHH, ZIC2, SIX3, and TGIF revealed no mutations. CONCLUSION:Prenatal diagnosis of HPE should include a biochemical examination to identify metabolic factors such as maternal diabetes, and preventive management should be considered in subsequent pregnancies to achieve good control of maternal diabetes.

journal_name

Taiwan J Obstet Gynecol

journal_title

Taiwanese journal of obstetrics & gynecology

authors

Chen CP,Su TH,Chern SR,Su JW,Lee CC,Wang W

doi

10.1016/j.tjog.2012.09.021

subject

Has Abstract

pub_date

2012-12-01 00:00:00

pages

630-4

issue

4

eissn

1028-4559

issn

1875-6263

pii

S1028-4559(12)00197-0

journal_volume

51

pub_type

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