Endocrine Abstracts

Introduction: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformation of the birth canal in women. It is defined as agenesis of the uterus and vagina with normal development of secondary sexual characteristics and a normal karyotype (46, XX). This is an entity with a heavy psychological impact requiring multidisciplinary care.

Observation 1: We report the case of a 16-year-old patient with a history of delayed puberty in the sister, who consulted for primary amenorrhea. Clinical examination revealed a height delay of -3 standard deviation, a weight delay of -1 standard deviation and a Tanner stage A1 S1 P1. Hormonal exploration found hypergonadotropic hypogonadism. The karyotype showed a female genetic sex (46 XX). Abdominal pelvic ultrasound and MRI revealed utero-vaginal aplasia. The impact assessment showed a bone age of 13 years compared to a chronological age of 16 years. Hormone therapy treatment is started, associated with psychological care.

Observation 2: A 15-year-old patient with no notable history consulted for delayed height and puberty. Clinical examination revealed a statural delay at -2 standard deviation and Tanner stage S1P1A1. Hormonal workup showed hypergonadotropic hypogonadism with FSH at 133.4 IU/l and LH at 28.85 IU/l with low plasma estradiol levels. The karyotype showed a female genetic sex of 46, XX in the absence of Y chromosomal material. Ultrasound and abdominal pelvic MRI revealed utero-vaginal hypoplasia. The impact assessment showed a bone age of 12 years compared to a chronological age of 15 years. The diagnosis of MRKH was made with the absence of associated malformations. Estrogen therapy was started in our patient.

Discussion and conclusion: MRKH syndrome is a rare congenital malformation characterized by hypergonadotropic hypogonadism and which should be considered in the presence of any utero-vaginal abnormality. MRI is the exam of choice for the diagnosis of this syndrome. Its management is multidisciplinary and is essentially based on hormone replacement therapy.