Ambiguous Genitalia in Newborns May Be More Common Than Previously Estimated

baby, newborn
Ambiguous genitalia in newborns may be more common than previously thought.

HealthDay News — Ambiguous genitalia in newborns may be more common than previously thought, according to a study published online April 24 in the Journal of the Endocrine Society.

In an effort to determine the frequency of ambiguous genitalia in newborns, Banu Kucukemre Aydin, M.D., of Istanbul University, and colleagues examined 14,177 infants at birth at three tertiary care hospitals in Turkey. Data were collected on weeks of gestation, birth weight, and length, and a structured questionnaire was used to gather information on medications and exposure to hormonal agents just before and during the pregnancy. The authors also performed clinical and genetic investigations.

The researchers found that 18 newborns had ambiguous genitalia. Fifteen newborns were diagnosed with 46,XY disorders of sex development (DSD), one newborn had 46,XX congenital adrenal hyperplasia, and one newborn was diagnosed with 45,X/46,XY mixed gonadal dysgenesis. The ratio of prematurity was higher in the DSD group (44 versus 11 percent), as was the ratio of small for gestational age (22 versus 5 percent). Additional medical conditions such as preeclampsia, depression, insulin resistance, and gestational diabetes mellitus were present in the mothers of eight babies with DSD.

“This frequency is higher when compared to previous studies,” Aydin said in a statement. “Many previous studies used registries with a low capture rate, but our study was done prospectively. These findings support the hypothesis that early placental dysfunction and androgen deficiency might be important in the etiology of male genital anomalies.”

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