[Partial gonadal dysgenesis in a 12-year-old girl--diagnostic and therapeutic difficulties].

Abstract

The authors present a 12-year-old girl who was seen in the out-patient Endocrinology Clinic, University Children's Hospital of Cracow, with the preliminary diagnosis of androgen insensitivity syndrome, presenting with progressing virilisation, breast underdevelopment and dysmorphy. Pubarche was normal. Gynecological examination revealed ambiguous external genitalia. On ultrasound examination homo genic gonad-like structures without follicles were seen, but no uterus was present. Basic hormonal studies indicated hypogonadotropic hypogonadism. The child was diagnosed as partial gonadal dysgenesis 46, XY. A gonadectomy was performed due to the 30-40% risk of gonadoblastoma development characteristic for such cases, and estrogen substitution followed after the surgery. The authors stress the necessity of including partial gonadal dysgenesis and partial androgen insensitivity syndrome in the differential diagnosis of delayed puberty. In both the above mentioned syndromes the clinical features are similar but the management differs. The authors stress the importance of establishing the cause of the condition and further management prior to discharging the neonate. The ultimate sex must allow the patient to best fulfill his/her psychosocial role in society and reduce the psychological trauma.