Background: Gonadal dysgenesis in female is defined as absent or insufficient development of ovaries. The patient with gonadal dysgenesis presents with primary amenorrhea and lack of development of secondary sexual characteristics. The patterns of inheritance is thought to be autosomal recessive.
Case 1: A fourteen and half year-old-girl, presented with delayed puberty. She was born from consanguineous parents. Pelvic ultrasonography revealed streak ovaries and hormone profile was consistent with hypergonadotropic hypogonadism. Thyroid, adrenal and GH levels were normal. Karyotype was that of a normal female, 46,XX.
Case 2 and 3: We subsequently examined the probands sisters who were then 11 and 22 years old. Their laboratory and imaging results were similar to those of the proband. 22-year-old girl, sibling of the first patient, was investigated because of primary amenorrhea. She was receiving oral contraceptives therapy for primary amenorrhea of unknown cause. Genetic analyses of cases for SF- 1 mutation are in progress.
Conclusion: A rare disease of gonadal dysgenesis in three siblings is presented.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology