Mixed gonadal dysgenesis and precocious puberty.

Abstract

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.

• Authors: D I Iliev, M B Ranke, H A Wollmann
• Journal: Hormone research (Horm Res) Vol. 58 Issue 1 Pg. 30-3 ( 2002) ISSN: 0301-0163 [Print] Switzerland
• PMID: 12169778 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2002 S. Karger AG, Basel

Topics

• Adolescent
• Child
• Child, Preschool
• Disorders of Sex Development (diagnosis, etiology)
• Female
• Gonadal Dysgenesis, Mixed (complications, diagnosis)
• Gonadoblastoma (complications, diagnosis)
• Humans
• Male
• Ovarian Neoplasms (complications, diagnosis)
• Puberty, Precocious (diagnosis, etiology)
• Testicular Neoplasms (complications, diagnosis)