Abstract

Context

There is scarce information on the natural history of gonadal function of testicular disorders/differences of sex development (T-DSD) and ovotesticular DSD (OT-DSD).

Objective

To evaluate gonadal outcome in a large cohort of cases of T-DSD and OT-DSD.

Methods

A total of 29 cases of T-DSD and 32 cases of OT-DSD were identified from 20 centers across 13 countries in the I-DSD Registry.

Results

Male registration at birth occurred in 24 (83%) and 18 (56%) cases of T-DSD and OT-DSD, respectively. Of 42 cases registered as male, there were no cases of sex reassignment, while of 17 cases registered as female, 2 cases of T-DSD were reassigned within the first year of life. In male infants, stretched penile length (SPL) was <5th centile in 11/15 (73%) and similar in T-DSD and OT-DSD. However, in adolescence, median SPL in boys with OT-DSD (n, 5) and T-DSD (n, 4) was 5 cm (4.8, 7.5) and 9.5 cm (7.5, 12.5), respectively (P < .05). Of the 14 male and 4 female individuals who were aged >14 years, 7 (50%) and 2 (50%), respectively, had spontaneous puberty. In 8/9 (89%) male and 1/2 (50%) female adolescents and adults, serum gonadotropins were above reference range. However, in 8/9 (89%) males, serum testosterone was within the reference range. In 34 cases with available data, gonadal tumors had not been reported at a median age of 11.3 years (1 month, 35.5 years).

Conclusion

In young adulthood, biochemical evidence of primary gonadal insufficiency is present in the majority of males and females with T-DSD and OT-DSD. In males with OT-DSD, micropenis may persist in young adulthood despite normal testosterone concentration.