Introduction:: Primary amenorrhea with normal secondary sexual characteristics can arise from multiple etiologies with overlapping clinical and biochemical features, making precise diagnosis difficult. Disorders of Sex Development (DSD) encompass congenital conditions where the typical development of chromosomal, gonadal, or anatomical sex is altered, affecting an estimated 1 in 4500–5000 individuals. Absent uterus in patients with pure gonadal dysgenesis can be either due to co-existent MRKH or a manifestation of estrogen deficiency leading to its ‘growth restriction’. In this case, the absence of a uterus on imaging, elevated gonadotropin levels, and presence of normal external genitalia required careful exclusion of several differential diagnoses, including MRKH syndrome, pure gonadal dysgenesis, and Androgen Insensitivity Syndrome. Case Presentation: A 16-year-old female presented to the gynaecology outpatient department with a complaint of primary amenorrhea. Secondary sexual characteristics were not well developed, with breast development being Tanner stage I and absent axillary and pubic hair. External genitalia, including labia majora, labia minora, and clitoris, were normal for age. Investigations revealed hypergonadotropic hypogonadism with absent uterus and ovaries, and a small blind vaginal pouch at the lower end. She was put on estrogen replacement therapy for the development of secondary sexual characteristics and for her bone, cardiovascular, and psychosocial health. Conclusion:: The present case highlights the diagnostic dilemma faced by clinicians encountering such cases and reinforces the important role of estrogen in the development of Müllerian ducts. The deficiency of estrogen in cases of pure gonadal dysgenesis can closely resemble the clinical profile of patients with MRKH.
Mangla et al. (Fri,) studied this question.