Clinical Findings and Characteristics of Gonad at Diagnosis of Ovotesticular Disorders of Sex Development / 대한소아내분비학회지

ABSTRACT

PURPOSE: Ovotesticular disorder of sex development (OTDSD) is rare condition and defined as the presence of both ovarian and testicular tissues in the same individual. We aimed to investigate clinical characteristics of patients and histologic findings of gonads at diagnosis of OTDSD and to characterize patients diagnosed with gonadal tumor. METHODS: We retrospectively reviewed the records of 20 patients histologically confirmed as OTDSD between 1980 and 2009 in Seoul National University Hospital. Age, chief complaints, karyotype, external and internal genital organs at diagnosis and gonadal histology were investigated. RESULTS: Age at histologic diagnosis of OTDSD was 5.1 years of age (0.1 - 28 yr). Chief complaints at diagnosis included wide spectrum of ambiguous genitalia including hypospadia and clitoromegaly (n = 15), inguinal mass (n = 3) and gynecomastia (n = 2). Thirteen cases (65%) showed 46,XX karyotype and 24 (61.5%) of 39 gonads histologically confirmed ovotestes. Testis was found in right (83.3%), in inguinal or scrotal area (84.2%) and ovary was in left (88.9%), in pelvis or abdomen (88.9%). Three cases (15%) were diagnosed with gonadal tumor, who all had undergone gonadectomy in the second decade due to belated identification of gonad (10 yr) despite early diagnosis, incidentally developed clitoromegaly (12.9 yr), and inguinal mass (28 yr) after surgical correction of clitoromegaly at 2.9 years of age. CONCLUSION: Patients with OTDSD had wide spectrum of ambiguous genitalia including hypospadia and clitoromegaly. This study provides the importance of early diagnosis and gonadectomy in patients with OTDSD considering increased risk for gonadal tumor in the second decade.