ACTA ENDOCRINOLOGICA (BUC)

Background. Mixed gonadal dysgenesis is a disorder of sex development associated with a numerical or sex chromosome abnormality. There is no association between the degree of mosaicism and the phenotype. Case report. An 11 years old girl was admitted for excessive weight [BMI: 31.55 kg/m2 (+ 3 SD)]. The family medical history was positive for overweight and obesity, type 2 diabetes mellitus, but no evidence of gonadal disorders or infertility was found. Physical examination revealed Turner Syndrome stigmata, acanthosis nigricans, excessive adipose tissue, normal female type external genitalia, Tanner pubertal stage 0. Even though the patient’s main complaint was the excessive weight, the most striking feature was the short stature. Further evaluation showed decreased IGF-1 level, delayed bone age, GH deficiency and Impaired Glucose Tolerance. The genetic analysis performed showed 45, X0 (20%)/ 46, XY (80%) karyotype with positive SRY gene. The histopathological examination of bilateral gonad biopsy confirmed the presence of ovarian hypoplastic tissue in the left gonad and ovarian tissue suggesting gonadoblastoma of the right gonad. Conclusion. Correct diagnosis and management of these patients needs a multidisciplinary team effort. The benefit of GH treatment therapy was demonstrated in the majority of 45, X0 / 46, XY short stature patients.