Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehy-drogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. Often at birth this condition is not diagnosed, seeking medical treatment during adolescence for primary amenorrhea and virilization. This case report of late diagnosis shows us that 17β-HSD3 deficiency should always be taken into account in patients with DSD and 46 XY karyotype for a correct management. Still an open question is the timing of the choice of gender identity and the consequent surgical intervention in adolescent age.
When it’s not Morris syndrome: a case of virilization during the adolescent age and brief review of literature | Quando Morris non è: il caso di una adolescente con virilizzazione alla pubertà e breve revisione della letteratura
Berveglieri, V.;Folgheraiter V.;Gaudino R.
2023-01-01
Abstract
Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehy-drogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. Often at birth this condition is not diagnosed, seeking medical treatment during adolescence for primary amenorrhea and virilization. This case report of late diagnosis shows us that 17β-HSD3 deficiency should always be taken into account in patients with DSD and 46 XY karyotype for a correct management. Still an open question is the timing of the choice of gender identity and the consequent surgical intervention in adolescent age.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
