Introduction: Swyer syndrome (46, XY gonadal dysgenesis) is a rare disorder of sex development, characterized by a phenotypic female with streak gonads and hypergonadotropic hypogonadism. It presents with primary amenorrhea and delayed puberty. Overlapping clinical features with Turner syndrome may cause diagnostic uncertainty, highlighting the role of karyotypic evaluation in diagnosis. Case: A 35-year-old phenotypic female was first evaluated at age 27 during admission for an acute viral illness, when incidental findings of primary amenorrhea, short stature (height 131 cm), webbed neck, pectus excavatum, and absent secondary sexual characteristics raised suspicion of Turner syndrome. She had hypertension, with initial imaging suggesting coarctation of the thoracic aorta. CT angiography showed focal narrowing of the descending aorta; multidisciplinary review favored aortic folding, and she was managed conservatively. Endocrine evaluation demonstrated hypergonadotropic hypogonadism, with markedly elevated follicle-stimulating hormone (FSH 108.6 IU/L) and luteinizing hormone (LH 23.16 IU/L) in the presence of low estradiol levels. Pelvic imaging revealed an atrophic uterus with absence of bilateral ovaries, consistent with gonadal dysgenesis. Karyotypic analysis was performed, demonstrating a 46, XY genotype with confirmed SRY gene presence, establishing the diagnosis of Swyer syndrome. DEXA scan demonstrated osteoporosis, in keeping with prolonged hypogonadism. She was commenced on hormone replacement therapy, resulting in the development of secondary sexual characteristics and regular withdrawal bleeding. She remains under structured multidisciplinary follow-up, with endocrine-led management of hypothyroidism and osteoporosis, alongside cardiology follow-up and gynecological surveillance. Conclusion This case highlights the diagnostic complexity of disorders of sex development with overlapping phenotypes and the need for re-evaluation when clinical progression is atypical. Diagnosis enables hormone replacement therapy for induction of secondary sexual characteristics and preservation of bone health. Integration of clinical, biochemical, and genetic data within a multidisciplinary framework is essential to achieve diagnostic accuracy and optimize outcomes.
Turner Syndrome

Introduction: Central diabetes insipidus (CDI) is characterized by impaired arginine vasopressin secretion, resulting in hypotonic polyuria and hypernatremia. In patients with coexisting diabetes mellitus, persistent polyuria may be misattributed to hyperglycemia, delaying recognition of a concurrent water balance disorder. CDI without identifiable structural abnormalities may be overlooked, leading to delayed diagnosis and complications. Case: We report a 30-year-old Malay female with underlying type 2 diabetes mellitus and premorbid obesity who presented with hyperosmolar hyperglycemic state, accompanied by persistent polyuria, polydipsia, weight gain, and amenorrhea. Despite resolution of hyperglycemia, she had ongoing polyuria with hypernatremia, raising suspicion of a concomitant water balance disorder. Biochemical evaluation demonstrated a hyperosmolar state with serum osmolality 334 mOsm/kg and inappropriately dilute urine (urine osmolality 254 mOsm/kg), supporting impaired vasopressin activity. A modified water deprivation test showed a >50% rise in urine osmolality following desmopressin, consistent with CDI. Diabetes autoantibody screening was negative. Anterior pituitary function was preserved, with normal thyroid and adrenal axes (thyroidstimulating hormone 3.30 mIU/L, cortisol 290.6 nmol/L), and gonadotropins not suggestive of hypopituitarism (luteinizing hormone 6.8 IU/L, follicle-stimulating hormone 24.6 IU/L). Neuroimaging with computed tomography brain showed no structural hypothalamic–pituitary lesion. Magnetic resonance imaging of the pituitary demonstrated absence of the posterior pituitary bright spot, with preserved gland morphology and no focal lesion, supporting CDI without an identifiable structural cause. Her clinical course was complicated by severe hospitalacquired infection leading to septic shock, requiring intensive care support, mechanical ventilation, and renal replacement therapy. She was commenced on desmopressin, with subsequent clinical and biochemical improvement, alongside multidisciplinary management. Conclusion In patients with type 2 diabetes mellitus, persistent polyuria may obscure an underlying water balance disorder. This case highlights the importance of considering alternative causes of polyuria and a systematic endocrine approach to ensure accurate diagnosis and appropriate management.
Diabetes Mellitus, Type 2 ; Hyperglycemic Hyperosmolar Nonketotic Coma ; Diabetes Insipidus