Journal of pediatric and adolescent gynecology · 2026
A Novel TP63 Mutation in a Patient with Premature Ovarian Insufficiency Type 21: Clinical Phenotype and Diagnostic Challenges.
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Falcão Cardoso Beatriz, Mazeda Maria Luís, Rodrigues Gomes Vânia, Brandão Carla
Аннотация
BACKGROUND: Primary ovarian insufficiency (POI) is a rare cause of primary amenorrhea in adolescents. We report a case of POI type 21 caused by a TP63 pathogenic variant.
CASE PRESENTATION: An otherwise healthy 15-year-old girl presented with primary amenorrhea and absent thelarche. Investigations confirmed hypergonadotropic hypogonadism (46,XX karyotype). Pelvic MRI showed a hypoplastic uterus (14 × 9 × 10 mm) and indistinguishable ovaries. Genetic testing identified a pathogenic TP63 variant. Estrogen replacement therapy via escalating transdermal estradiol doses resulted in thelarche (Tanner stage 4) and remarkable uterine growth (35 × 18 mm).
CONCLUSION: Identifying the genetic etiology of POI is crucial for clinical management and family planning. TP63 variants represent a rare but significant cause of non-syndromic POI, requiring long-term multidisciplinary care and genetic counseling.
CASE PRESENTATION: An otherwise healthy 15-year-old girl presented with primary amenorrhea and absent thelarche. Investigations confirmed hypergonadotropic hypogonadism (46,XX karyotype). Pelvic MRI showed a hypoplastic uterus (14 × 9 × 10 mm) and indistinguishable ovaries. Genetic testing identified a pathogenic TP63 variant. Estrogen replacement therapy via escalating transdermal estradiol doses resulted in thelarche (Tanner stage 4) and remarkable uterine growth (35 × 18 mm).
CONCLUSION: Identifying the genetic etiology of POI is crucial for clinical management and family planning. TP63 variants represent a rare but significant cause of non-syndromic POI, requiring long-term multidisciplinary care and genetic counseling.