Unveiling the Unknown: Nicaragua's First Recorded Case of Mayer-Rokitansky-Küster-Hauser Syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder affecting the female reproductive system, primarily characterized by the absence or underdevelopment of the uterus and upper two-thirds of the vagina, with preserved ovarian function and normal secondary sexual characteristics. It is a rare disease though prevalence may vary based on genetic and environmental factors. This report details a case of a 26-year-old female patient with a history of smoking, alcohol use, and prior inguinal hernioplasty, presenting with primary amenorrhea and inability to engage in vaginal intercourse. The physical examination revealed signs of androgenic acne, acanthosis in the breasts, Tanner stage 4 breast development, and a reduced clitoral hood. An imperforate hymen was confirmed upon clinical examination. Pelvic ultrasound showed a hypoplastic uterus. Laboratory findings indicated hypogonadotropic hypogonadism, and genetic testing ruled out Turner syndrome and imperforate hymen. The next step was magnetic resonance imaging (MRI) which confirmed uterine hypoplasia and vaginal too, leading to the diagnosis of MRKH syndrome. The patient underwent successful CO2 laser vaginoplasty, and psychological support was provided to address the emotional and social aspects related to the diagnosis. This case, being the first documented in Nicaragua, highlights the importance of early diagnosis and a personalized treatment approach that addresses both the physical and emotional aspects of patients. Additionally, it underscores the need for close collaboration between various specialties including gynecology, endocrinology, genetics, and psychology to ensure comprehensive and optimal clinical and emotional outcomes in the management of patients with MRKH syndrome.