Third time's a charm? Three siblings with congenital adrenal hyperplasia
- Author:
Murillo Charmaine Valerie Y.
;
Bandola Maria Angela R.
- Publication Type:Journal Article
- MeSH:
Human;
Female;
Adult;
ADRENAL HYPERPLASIA, CONGENITAL;
HYPERANDROGENISM
- From:
Philippine Journal of Reproductive Endocrinology and Infertility
2011;8(1):25-29
- CountryPhilippines
- Language:English
-
Abstract:
This is a case report of M.C. a 32 year-old G3P2 (2001), who was admitted to the labor room of a tertiary government hospital for labor pains and watery vaginal discharge. The working impression at the time of admission was: Pregnancy uterine thirty-nine (39) weeks age of gestation by amenorrhea cephalic in labor, poor obstetric history for two full term deliveries with congenital anomaly. Patient is well with no medical co-morbidities. Her family and past medical histories were unremarkable. She previously delivered her two older children vaginally. Both of whom were later diagnosed with congenital adrenal hyperplasia (CAH) from newborn screening and manifestations of the external genitalia.
Congenital adrenal hyperplasia can be identified as early as six weeks age of gestation by doing karyotyping following chorionic villus sampling or the less invasive fetal sex determination using the maternal plasma. The optimum time to conduct these tests is between six to eleven weeks age of gestation. At this juncture, embryogenesis of the external genitalia is completed. Unfortunately, the mother`s prenatal course began at seventeen weeks age of gestation thus a diagnosis of CAH for this pregnancy is inconclusive.
After six hours of labor, she delivered to a live baby girl who on physical inspection of the genitalia appeared to be grossly normal at that time. She was directly roomed in. Newborn screening was done. With an unremarkable hospital stay, both mother and child were discharged. Follow-up at two weeks post patrum, the neonate presented with clitoromegaly and newborn screening came out positive for CAH.
