Improving the Diagnosis and Management of Disorders of Sex Development

Higher Rates of DSD With More Consanguinity

To determine the actual frequency of genital ambiguity in neonates, pediatric endocrinologist Banu Küçükemre Aydin, MD, from Kanuni Sultan Süleyman Training and Research Hospital Istanbul in Turkey, and colleagues, examined more than 14,000 infants born in 3 tertiary care hospitals during an 18-month period.6

The most prevalent DSD, found in 15 newborns, was 46,XY DSD, followed by 46,XX CAH, and 45,X/46,XY mixed gonadal dysgenesis.6 While the researchers acknowledged that the rate of genital ambiguity in newborns was higher than in Western populations, they hypothesized that higher rates of consanguineous marriages may have contributed to the greater occurrence of DSD.6

“We have found that ambiguous genitalia in newborns is much more common than previously thought, at least in our population,” said Dr Aydin. “Eighteen babies with ambiguous genitalia were found among 14,177 newborns (1.3/1000). There was only 1 baby with 46,XX karyotype among them, and she did not have low birth weight.”

Characteristics more common in the infants with DSD compared with the healthy infants included prematurity (44% vs 11%; P <.001), low birth weight (22% vs 5%; P =.007), and lower gestational age (35.5 vs 38.2 weeks; P <.001). In the study, 8      mothers who had complications such as preeclampsia, depression, insulin resistance, and gestational diabetes had infants with DSD.6

Summary & Clinical Applicability

In patients with disorders of sex development, early diagnosis and counseling yield better outcomes. Challenges in the standardization of laboratory tests to identify patients with DSD and addressing stigma are among the barriers to early identification and treatment.

Limitations & Disclosures


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4.      Lee PA, Nordenström A, Houk CP, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016;85(3):158-180.

5.      Dar SA, Nazir M, Lone R, et al. Clinical spectrum of disorders of sex development: a cross-sectional observational study. Indian J Endocrinol Metab. 2018;22(6):774-779.

6.      Aydin BK, Saka N, Bas F, et al. Frequency of ambiguous genitalia in 14,177 newborns in Turkey [published online April 11, 2019]. J Endocr Soc. doi:10.1210/js.2018-00408