Mixed gonadal dysgenesis and precocious puberty.
A girl aged 5 years and 6 months presented with premature thelarche in our outpatient clinic. During long-term observation, we recorded growth acceleration, advanced bone age, and elevated oestradiol levels which together were taken to confirm the diagnosis of precocious puberty. The patient was successfully treated with a gonadotropin-releasing hormone agonist, but in view of the poor growth prognosis, recombinant human growth hormone was administered concurrently. At the age of 9 years and 6 months a mild clitoris enlargement and conspicuous muscle development without any further signs of virilization were noticed. Laboratory findings showed high values for testosterone and normal basal values for 17-hydroxyprogesterone and dehydroepinadrosterone sulphate. Explorative laparotomy revealed a gonadoblastoma arising from testicular structures on the left, a female streak gonad on the right side, and normal uterus and fallopian tubes. The karyotype was 46,XY/45,X. These findings confirmed the diagnosis of mixed gonadal dysgenesis with testosterone-producing gonadoblastoma.
Iliev
D I
DI
Paediatric Endocrinology Section, University Children's Hospital, Tübingen, Germany.
Ranke
M B
MB
Wollmann
H A
HA
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000209:etiology; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000150:complications* / Q000175:diagnosis*; D018238:Gonadoblastoma / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008297:Male; D010051:Ovarian Neoplasms / Q000150:complications / Q000175:diagnosis; D011629:Puberty, Precocious / Q000175:diagnosis* / Q000209:etiology*; D013736:Testicular Neoplasms / Q000150:complications / Q000175:diagnosis