Background: Mixed gonadal dysgenesis (MGD) is a disorder of sex development associated with a numerical sex chromosome abnormality. Reported genital phenotypes range from female external genitalia or mild clitoromegaly through all stages of ambiguous genitalia to hypospadias or a normal penis, depending on the proportion of monosomic cells.
Case presentation: 18 years old girl, with a history of hypertension, ventricular septal defect and obesity presented with primary amenorrhoea and lack of secondary sexual characters. Physical examination revealed: obesity, normal stature, B1P4 pubertate development (Tanner), normal female type external genitalia, Turner syndrome stigmata (epicanthic folds, short 4th/5th metacarpals, hyperconvex nails, broad chest), acanthosis nigricans and her bone age was delayed (16 years). The genital examination identified an 8 cm vagina. Laboratory data reveals: high FSH (49.5 mIU/ml), high LH (17.7 mIU/ml) and low Estradiol (<5 pg/ml), normal Testosterone (0.15 ng/ml) and dyslipidemia. Abdominal and pelvic ultrasound detected hepatic steatosis, a small uterus (41/11/9 mm), two small hypoechogeny formations (possible ovarian residue) and the chromosomal analysis revealed 45,X/46,XY. Psychological consultation identified generalized anxiety disorder and female gender identity. After discussion with the patient and her parents, the decision was made to proceed with a diagnostic laparoscopy and bilateral gonadectomy owing to her increased risk of malignancy and continuation of secondary sexual maturation with hormone replacement.
Discussions: Early diagnosis of MGD is very important because a timely hormonal therapy can avoid complications induced by hormonal imbalance: lack of secundary sexual characters and because the increased risk of developing malignancy gonadal tumors. Delayed diagnosis favoured several complications like: obesity, hypertension, dyslipidemia, hepatic steatosis, insulin resistance and last but not least, generalized anxiety disorder.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology