Unusual association of Turner syndrome and Mayer-Rokitansky-Küster-Hauser syndrome

Abstract

Gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) are the most common causes of primary amenorrhoea. Patients with gonadal dysgenesis present with primary amenorrhoea and lack of secondary sexual characteristics, which, in contrast, are present in patients with MRKHS. The coexistence of the 2 syndromes has been reported in only a few studies so far. We describe a case of a 15-year-old girl who presented with short stature and primary amenorrhoea. Investigations revealed hypergonadotropic hypogonadism, and absence of the uterus, and upper two-thirds of the vagina, with presence of the rudimentary lower third of the vagina and non-visualised bilateral ovaries on imaging. Karyotyping obtained by lymphocyte culture GTG banding revealed 45X/46XX. The patient was diagnosed as having a rare case of gonadal dysgenesis with MRKH. She was started on growth hormone therapy. The association of these syndromes is uncommon, and has further implications on fertility and pregnancy, affecting the quality of life.

A Rare Case of Coexistence of Pituitary Stalk Interruption Syndrome and Mayer-Rokitansky-Küster-Hauser Syndrome

“…LH and FSH are in normal range due to normal function of the pituitary-ovary axis [4]. A few cases of MRKH syndrome coexisting with Turner Syndrome, which presented with short stature and hypergonadotropic hypogonadism, have been reported [4]. However, our patient, who had normal karyotype and HH, was against the diagnosis of Turner syndrome.…”

“…But her short stature and hypogonadotropic hypogonadism (HH) were not coherent with the usual MRKH syndrome. Patients with MRKH syndrome usually present with normal stature and secondary sexual development [3][4]. LH and FSH are in normal range due to normal function of the pituitary-ovary axis [4].…”

“…Patients with MRKH syndrome usually present with normal stature and secondary sexual development [3][4]. LH and FSH are in normal range due to normal function of the pituitary-ovary axis [4]. A few cases of MRKH syndrome coexisting with Turner Syndrome, which presented with short stature and hypergonadotropic hypogonadism, have been reported [4].…”

Precocious puberty or growth hormone deficiency as initial presentation in Mayer-Rokitansky-kuster-Hauser syndrome: a clinical report of 5 cases

“…Until now, only one patient with PP has been reported in a child with MRKHS who was treated with GnRHa [ 7 ]. As for GH therapy, twelve months of GH treatment in a short MRKHS patient induced a significant increase in height without complications [ 32 ]. In this study, we did not prescribe GnRHa to the patient with PP because she had a normal predict height notwithstanding her advanced BA.…”

An unusual association of type II Mayer-Rokitansky-Kuster-Hauser syndrome, turner mosaic syndrome and tubo-ovarian inguinal hernia– case report and review of literature

“…These females have absent or insufficient development of ovaries and may present with lack of development of secondary sexual characteristics, primary amenorrhea and/or specific Turner stigmata. Karyotype may reveal 45XO, mosaicism or absence of some specific part on X chromosome [ 6 ].…”