The Journal of clinical endocrinology and metabolism · 2026
Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Sepich Margherita, Bertelloni Silvano, Tyutyusheva Nina, Lucas-Herald Angela, Mazen Inas, Cools Martine, Van Paemel Ruben, Poyrazoğlu Şükran, Hiort Olaf, Döhnert Ulla, Neumann Uta, Phan-Hug Franziska, Atapattu Navoda, Seneviratne Sumudu, Markosyan Renata, Rey Rodolfo, Suco Sofia, Baronio Federico, Lichiardopol Corina, Verkauskas Gilvydas, Stancampiano Marianna, Russo Gianni, Konrad Daniel, Lenherr-Taube Nina, Hannema Sabine, Gazdagh Gabriella, Peroni Diego, Ahmed Syed Faisal
Аннотация
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.
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.