Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital malformation characterised by uterine agenesis and absence of the upper two-thirds of the vagina in phenotypically normal females with a 46,XX karyotype. We report the case of a 22-year-old woman presenting with primary infertility. Clinical examination revealed normal external genitalia with a shallow vaginal dimple. Pelvic ultrasound and MRI showed complete agenesis of the uterus and upper vagina, with normal ovaries. Hormonal evaluation confirmed preserved ovarian function, and karyotyping revealed a normal 46,XX profile. Diagnostic laparoscopy confirmed the diagnosis of type I MRKH syndrome. This case highlights the importance of considering this diagnosis in any woman with primary amenorrhea, even when revealed late in the context of infertility.

Congenital anomalies of the genitourinary system are uncommon but clinically significant due to their impact on urinary and reproductive function. Zinner syndrome and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are rare developmental disorders involving the mesonephric and Müllerian ducts, respectively, and often present with nonspecific clinical features, making imaging essential for accurate diagnosis. We present a series of three cases evaluated using magnetic resonance imaging (MRI). One case involved a young male presenting with dysuria and testicular discomfort, demonstrating unilateral renal agenesis, an ipsilateral seminal vesicle cyst, and an associated atretic ureter, consistent with Zinner syndrome. The other two cases involved young females presenting with primary amenorrhea. MRI revealed the absence of the uterus and upper vagina with normal ovaries in both cases, consistent with MRKH syndrome, with one case showing associated bilateral ectopic kidneys. MRI provided a comprehensive evaluation of pelvic anatomy, clearly delineating the congenital anomalies and associated findings. Recognition of characteristic imaging features is essential for accurate diagnosis and appropriate clinical management.

Primary amenorrhea (PA) in a young girl can result from structural, functional, or hormonal disorders. Accurate diagnosis is essential for counseling on hormone replacement and fertility. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by an absent or hypoplastic uterus and presents with PA. Congenital adrenal hyperplasia (CAH) is a steroidogenic defect that may present at any age but rarely as PA. We report a 33-year-old woman who initially presented at age 17 with PA and was labeled as having MRKH syndrome due to a hypoplastic uterus. She was treated by multiple dermatologists for resistant acne between ages 20 and 32. During evaluation of hyperandrogenism, her computed tomography scan of the abdomen revealed a right adrenal mass, prompting an endocrine referral. Our evaluation showed virilization, clitoromegaly, and a hormonal profile suggestive of simple virilizing CAH. Gene sequencing showed a homozygous missense variation in exon 4 of the CYP21A2 gene (chr6:g.32007203T>A) (c.518T>A) (p.Ile173Asn), confirming CAH. She was managed with glucocorticoids, antiandrogens, and estrogen supplements. She had menarche 6 months after therapy at age 33. We report this case to highlight the importance of detailed endocrine evaluation in patients with PA.

Relative energy deficiency in sport (REDs) is a multisystem syndrome resulting from chronic low energy availability that impairs metabolic, reproductive, skeletal, cardiovascular, and psychological health in athletes of all genders. This article reviews the epidemiology and pathophysiology of REDs and outlines major complications, including low bone mineral density, stress fractures, infertility, and potential vascular dysfunction/cardiometabolic effects. Sex-specific considerations, including functional hypothalamic amenorrhea in females, are also explored. A practical diagnostic approach highlights focused history-taking, targeted laboratory evaluation, and application of the International Olympic Committee Relative Energy Deficiency in Sport Clinical Assessment Tool Version 2 for risk stratification. Management strategies center on restoring adequate energy availability through nutritional rehabilitation and training modification, supported by psychological care, optimization of calcium and vitamin D, and selective use of hormonal or bone-active therapies in refractory cases. Because many at-risk athletes first present to primary care, this article focuses on equipping clinicians with the knowledge and tools needed to recognize, evaluate, and manage REDs and to coordinate multidisciplinary care to prevent long-term morbidity.

Dysmenorrhea is a Greek term for “painful monthly bleeding.”[1] Dysmenorrhea can be classified as primary and secondary dysmenorrhea. Primary dysmenorrhea is a lower abdominal pain happening during the menstrual cycle, which is not associated with other diseases or pathology.[2] In contrast, secondary dysmenorrhea is usually associated with other pathology inside or outside the uterus.[3] Dysmenorrhea is a common complaint among women during their reproductive age. Dysmenorrhea is associated with significant emotional, psychological, and functional health impacts.[4]

46,XY disorders of sex development (DSDs) are rare congenital conditions resulting from impaired gonadal differentiation and/or steroidogenesis. The NR5A1 gene encodes steroidogenic factor 1 (SF-1), a key regulator of gonadal development and endocrine function, and pathogenic variants are associated with a broad phenotypic spectrum that may present beyond the neonatal period. We report the case of a 12-year-and-6-month-old phenotypic female adolescent presenting with severe hirsutism, acne, primary amenorrhea, and progressive virilization. Hormonal evaluation demonstrated hyperandrogenism with hypergonadotropic hypogonadism. Imaging revealed the absence of a normal uterus and ovaries, with the presence of a Müllerian remnant, along with bilateral gonadal structures consistent with testicular tissue, and cytogenetic analysis showed a 46,XY karyotype. Genetic testing identified a novel heterozygous pathogenic NR5A1 splice-site variant (c.871-2A>G), confirming the diagnosis of 46,XY DSD. Multidisciplinary management included bilateral gonadectomy followed by estrogen replacement therapy. This case highlights an uncommon adolescent presentation of 46,XY DSD revealed by severe hyperandrogenism in a phenotypic female individual and underscores the importance of molecular genetic testing for accurate diagnosis, management, and long-term follow-up.

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder, which is present in genetically confirmed males who exhibit female phenotypic characteristics. In this case, an intra-abdominal testis, which subsequently transformed into a malignant germ cell tumor, is a rare malignant evolution that is infrequently reported in phenotypically female patients.  A South Indian origin, 41-year-old phenotypic female with untreated primary amenorrhea presented with progressive abdomino-pelvic distension. MRI imaging demonstrated a large pelvic mass with retroperitoneal lymphadenopathy; biopsy confirmed dysgerminoma with elevated beta-human chorionic gonadotropin (β-hCG) and lactate dehydrogenase (LDH). She completed neoadjuvant bleomycin, etoposide, and cisplatin (BEP) chemotherapy followed by cytoreductive surgery, which revealed intra-abdominal testes with a complete pathological response, and subsequent karyotyping confirmed a 46,XY pattern consistent with CAIS. Malignant transformation of intra-abdominal testicular tissue in a phenotypically female patient is exceptionally rare and emphasizes the critical importance of early diagnosis; a proper treatment regimen is warranted to improve patient care.