BACKGROUND Primary care physicians are frequently faced with the challenge of evaluating primary amenorrhea in adolescent girls. Approximately 15% of these women have abnormal genital examination, with Müllerian agenesis being the second most frequent cause. We report two cases of adolescents with Müllerian agenesis that presented to a tertiary adolescent medicine center with primary amenorrhea...

Deletion of integrin-beta1 (Itgb1) in the kidney collecting system led to progressive renal dysfunction and polyuria. The defect in the concentrating ability of the kidney was concomitant with decreased medullary collecting duct expression of aquaporin-2 and arginine vasopressin receptor 2, while histological examination revealed hypoplastic renal medullary collecting ducts characterized by inc...

Aphallia or penile agenesis is an extremely rare congenital anomaly with an estimated incidence rate of 1 in 10 to 30 million births. We report a rare case of aphallia with right kidney hypoplasia and left kidney dysplasia in a 10-day old Iranian-Azeri male. The patient had creatinine rise and renal failure due to dysplastic left kidney and hypoplastic right kidney and expired on fifth day of a...

Failure of development of the primitive lung bud leads to an extremely rare congenital anomaly with a prevalence of 34 per 10 lac live births termed pulmonary aplasia. In half of such cases, associated congenital malformations of the cardiovascular, skeletal, gastrointestinal, or genitourinary systems are present. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as the congenital a...

Müllerian agenesis occurs in 1 out of every 4,000–10,000 females. The most common presentation of müllerian agenesis is congenital absence of the vagina, uterus, or both, which also is referred to as müllerian aplasia, Mayer–Rokitansky–Küster–Hauser syndrome, or vaginal agenesis. Satisfactory vaginal creation usually can be managed nonsurgically with successive vaginal dilation; however, there ...

The Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome is a rare anomaly characterized by congenital aplasia of the uterus and vagina in women showing normal development of secondary sexual characters and normal 44 XX karyotype. We report our experience in the management of two patients with congenital absence of the vagina due to the MRKH syndrome. The first case was a 24-year-old student, who pre...