Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature

Abstract

Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the Mullerian structures are absent or rudimentary. It is also associated with anomalies of the genitourinary and skeletal systems. Its association with gonadal dysgenesis is extremely rare and appears to be fortuitous, independent of chromosomal anomalies. We report such a case in a 21-year-old girl who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46, XX. No chromosome Y was detected at the fluorescence in situ hybridization (FISH) analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic magnetic resonance imaging. Laparoscopy disclosed concomitant ovarian dysgenesis and MRKH syndrome. There were no other associated malformations. Hormonal substitution therapy with oral conjugated estrogens was begun. The patient has been under regular follow-up for the last two years and is doing well.

Clinical and Radiological Findings in Mayer-Rokitansky-Küster-Hauser Syndrome Type 2

“… 2 – 5 , 10 Patients with type 2 (atypical) MRKHS may have gonadal dysgenesis or ectopic ovaries in the absence of other associated systemic malformations. 6 , 7 , 11 Chromosomal aberrations may present in women with either type of MRKHS and has been seen in 1.4–4%, contradicting the usual karyotype definition in the syndrome. 2 , 3 …”

Mayer rokitansky kuster hauser syndrome with pituitary hypoplasia A rare case report from Pakistan

“…Primary amenorrhea is clinically defined as the non-appearance of menstruation by the age of 14, when secondary sexual Gonadal dysgenesis stands as a prevailing etiological factor in primary amenorrhea and concurrent absence of secondary sexual traits. Subsequently, the MRKH syndrome emerges as the subsequent contributor, characterized by uterovaginal atresia, specifically in 46, XX karyotypic females [6].…”

Primary Amenorrhea With Hypothyroidism: Finding the Cause

“…Patients with only Müllerian agenesis without ovarian failure (or gonadal dysgenesis) have normal secondary sexual characters with normal LH, FSH, and estradiol levels because gonads have different embryonic origins [5][6]. If secondary sexual characters are absent, together with the absence of internal sexual structure, then the diagnosis will be Müllerian agenesis [Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with gonadal dysgenesis] [5].…”

“…After complete history-taking, physical examination, and initial investigations of our patient, two main differentials were made: Turner's syndrome and Müllerian agenesis with ovarian failure as the cause of primary amenorrhea. In the ultrasonography pelvis report of our patient, ovaries and uterus were absent; Müllerian agenesis with ovarian failure was one of our differentials as there was a case reported in the literature that showed Müllerian agenesis with ovarian failure [ 5 ].…”