Publication:

Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with a 46, XX karyotype: a case report

The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare. Hypofunction of the ovaries can be either primary or central in etiology. It may be caused by congenital failure of development, postnatal destruction (primary or hypergonadotropic hypogonadism), or lack of central stimulation by the pituitary and hypothalamus (secondary or tertiary hypogonadotropic hypogonadism). Mutations of certain genes could result in primary ovarian insufficiency. Diagnosis of the hypergonadotropic hypogonadisim before puberty difficult because most affected patients have no prepubertal clinical manifestations. We report such a case of 17 year old girl who presented with primary amenorrhea and impuberism. The endocrine study revealed hypergonadotropic hypogonadism. The karyotype was normal, 46XX. On USG abdomen infantile uterus was seen and no ovarian structures. On MRI pelvis no definite uterine or ovarian tissues could be seen, only rudimentary vagina is seen. Hormonal therapy with estrogen and progesterone was begun.