Primary Amenorrhea: A Müllerian Agenesis Case Report

Abstract

A case of müllerian agenesis, Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome, in a 16 year-old female with primary amenorrhea is reported. This patient exhibited normal female external physical characteristics with a shallow, blind vaginal pouch upon examination. Serologic hormone evaluation as well as karyotype determination revealed normal pubertal female range hormones and 46, XX, respectively. MRKH Syndrome has a prevalence of 1 in 4000 to 10000 females. Treatment is multi-factorial and should include nonsurgical vaginal dilator therapy, surgical neovaginal options, as well as psychosocial support and counseling on future reproductive options.surgical history included an exploratory laparoscopy for suspected appendicitis that proved negative, but a paraovarian cyst was excised with ovarian cyst confirmed (Figure 1). Her family history was unremarkable and no birth defects, sexual anomalies, or chromosomal anomalies were reported.The physical examination revealed Tanner stage 5 breast development and female pubic hair distribution. A bimanual examination and subsequent speculum examination revealed a blind vaginal pouch approximately 2.5 cm in depth as well as an anterior recess just proximal to the pubic rim. Exploration with a sterile probe revealed that the recess was approximately 6 cm long. Case PresentationA 16 year-old sexually active female with thelarche at 12 years-old and pubarche at 13 years-old presented with primary amenorrhea. She stated that she had bloating, irritability, and low abdominal cramping every 28 days, lasting 1-2 days, without vaginal spotting or bleeding. She stated that she had been sexually active for the last year with the same partner, but she had pain and resistance during attempted intercourse. She also stated that she had vaginal spotting following intercourse.A review of the patient's past medical history, medications and supplements, allergies, and social history were unremarkable. Her

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].…”