ArticleThe Journal of clinical endocrinology and metabolism2026
Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.
Article in The Journal of clinical endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
contextThere is scarce information on the natural history of gonadal function of testicular disorders/differences of sex development (T-DSD) and ovotesticular DSD (OT-DSD).
objectiveTo evaluate gonadal outcome in a large cohort of cases of T-DSD and OT-DSD.
methodsA 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.
resultsMale 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).
conclusionIn 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.
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