A rare case of Turner's syndrome presenting with Mullerian agenesis
A 35-year-old female presented with short stature and primary amenorrhea. Her height is 122 cm, weight 34 kg, and she showed fairly normal intelligence. She had a history of delayed milestones and stunted growth. She was born out of consanguineous marriage and her sibling is healthy []. Maternal age at the time of birth of the patient and her sibling is 19 and 25 years, respectively. Physical examination revealed a female phenotype with short stature and cubitus valgus. Her breast and pubic hair development were Tanner's stage I [].\nExamination of the cardiovascular, respiratory, and neurological systems is normal. Gynecological examination revealed short vaginal canal with no visible cervix. She was admitted with a provisional diagnosis of Turners's syndrome.\nLaboratory investigations revealed normal hematological and biochemical parameters except that her thyroid profile showed low triiodothyronine (T3), thyroxine (T4), and thyroid-stimulating hormone (TSH), suggestive of primary hypothyroidism. Magnetic resonance imaging (MRI) brain revealed normal brain parenchyma and pituitary. Two-dimensional (2D) echocardiography was normal. Her buccal smear was negative for sex chromatin (Barr body). Her pelvic ultrasound revealed absent ovaries, uterus, and cervix. Other organs like kidneys, pancreas, liver, and adrenals were normal. These findings were confirmed by MRI of the pelvis. Even though laparoscopy is the best confirmatory test, it could not be done due to denial of consent. Karyotyping was done which showed 45 chromosomes with one X chromosome missing (45, X) [].\nThis karyotype was found in all cells examined, thus confirming the diagnosis of Turner's syndrome.