Introduction Gonadal dysgenesis in females which would be presented with 46 XX is characterised by the presence of primary amenorrhea with or without normal secondary sexual characteristics. It is commonly described without normal secondary sexual characteristics such as breast development. In this study, we aimed to report a familial pure gonadal dysgenesis with and without normal secondary sexual characteristics.
Case presentations In a family consisting 9 siblings of non-consanguineous parents, three sisters (age 22, 17 and 13 years) presented with complaints of amenorrhoea. The 13 years old girl mentioned no secondary characteristics of puberty. The 17 years old girl showed secondary characteristics of puberty without previous history of hormone therapy. Also, the 22 years old girl showed secondary characteristics and clinicians recommended hormone therapy after marriage for her infertility and even delivered a baby. The elder two sisters had a normal female phenotype and the youngest had amenorrhea with no breast development (B1) and pubic hair. Furthermore, according to physical examination, deafness was not mentioned.
Conclusions According to results, it seems that clinicians should consider different presentation for pure gonadal dysgenesis with familial pattern and further evaluation is needed in malignant degeneration of the gonadal dysgenesis in the patients with 46, XX PGD.
- 46 XX
- gonadal dysgenesis