Hematocolpos is a rare but clinically significant cause of abdominal pain in peripubertal females and may be misdiagnosed as more common conditions such as constipation. We report a case of a girl aged 10 years and 10 months with multiple emergency department visits for recurrent abdominal pain, initially attributed to constipation with unremarkable prior imaging. She presented again with persistent symptoms and no history of menarche despite signs of puberty. Physical examination revealed findings suggestive of hematocolpos. Point-of-care ultrasound (POCUS) demonstrated a distended uterus, which was confirmed on formal ultrasonography. The patient was diagnosed with hematocolpos, likely secondary to an imperforate hymen, and underwent hymenectomy with a good outcome. This case highlights the importance of considering gynecologic etiologies in peripubertal females with abdominal pain and the utility of POCUS in early diagnosis.

Female gonadal disorders encompass a diverse group of conditions affecting ovarian function, often presenting as delayed puberty, menstrual irregularities, and infertility. In tropical regions, the etiological spectrum of hypogonadism differs significantly due to the high burden of infectious diseases, malnutrition, and unique environmental exposures. This review highlights the pathophysiology, clinical features, and management of female gonadal dysfunction with particular emphasis on tropical-specific causes. Disorders are broadly classified into primary (hypergonadotropic) and secondary (hypogonadotropic) hypogonadism, involving disruption of the hypothalamic–pituitary–gonadal axis. In addition to common global causes such as polycystic ovarian syndrome and functional hypothalamic amenorrhea, tropical regions demonstrate a higher prevalence of infection-related and systemic conditions. Key contributors include pelvic tuberculosis, HIV-associated ovarian dysfunction, mumps oophoritis, and tubercular hypophysitis, as well as non-infectious causes such as chronic undernutrition, congenital adrenal hyperplasia, Sheehan syndrome, and snake bite–induced pituitary insufficiency. These conditions may impair ovarian reserve, disrupt hormonal signaling, or lead to irreversible gonadal damage. Clinical manifestations vary with age and severity, ranging from primary amenorrhea and absent secondary sexual characteristics to secondary amenorrhea, infertility, and systemic complications such as osteoporosis and cardiovascular disease. Diagnosis relies on biochemical evaluation of gonadotropins and estradiol, supported by imaging and etiological investigations tailored to regional risk factors. Management requires a cause-specific approach, with hormone replacement therapy when indicated. Fertility preservation and assisted reproductive options should be considered where appropriate. Early recognition and region-specific evaluation are critical to improving reproductive and long-term health outcomes. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.

Primary adrenal insufficiency (AI) is characterized by insufficient adrenal cortisol production, even with very high adrenocorticotrophic hormone (ACTH) stimulation. Despite massive stimulation of the adrenal cortex in primary AI, there is scarce data describing an association between autoimmune AI and adrenal tumors. This report describes a 17-year-old female presenting with secondary amenorrhea, elevated 17-hydroxyprogesterone (17-OHP) and a lipid-poor adrenal tumor. She was subsequently found to have very low morning cortisol, markedly high ACTH, and positive anti-adrenal antibodies. The diagnosis of autoimmune adrenalitis causing primary AI was made. Fluorodeoxyglucose positron emission tomography (FDG-PET) scan demonstrated intense uptake (standardized uptake value (SUV) of 19.4) in the adrenal lesion. Laparoscopic adrenalectomy revealed a benign adrenal cortical adenoma. Her 17-OHP normalized postoperatively, and her menses resumed with treatment of adrenal insufficiency. This case highlights an interesting coincidence of an adrenal adenoma and primary autoimmune adrenalitis, resulting in elevated 17-OHP and amenorrhea. Low expression of 21-hydroxylase in adrenal adenomas has been previously documented and is suspected in this patient, unmasked by chronic ACTH stimulation.

Primary amenorrhoea is defined as the absence of menarche by 15 years of age in individuals with normal secondary sexual characteristics and is most commonly due to constitutional delay, gonadal dysgenesis or outflow tract abnormalities. We describe an adolescent female who presented with isolated primary amenorrhoea despite normal pubertal onset and progression and no neurological symptoms. Biochemical evaluation demonstrated a central hypothalamic-pituitary pattern of hypogonadism, prompting neuroimaging. MRI revealed a large intraventricular mass causing obstructive hydrocephalus with compression of the hypothalamic-pituitary axis, alongside multifocal intracranial disease and spinal drop metastases. Integrated multidisciplinary assessment confirmed rosette-forming glioneuronal tumour, a rare central nervous system neoplasm. Management required combined neurosurgical and endocrine input, including cerebrospinal fluid diversion, subtotal tumour debulking and proton beam craniospinal irradiation. This case highlights that central nervous system pathology should be considered in unexplained primary amenorrhoea, even in the absence of neurological symptoms.

Imperforate hymen should be suspected in adolescent girls presenting with primary amenorrhea and cyclic abdominal or pelvic pain. Early genital examination is essential for timely diagnosis. Prompt hymenectomy prevents hematocolpos, urinary obstruction, infection, and future reproductive morbidity.

Congenital anomalies of the extremities, particularly bilateral toe or finger malformations, may provide an early and valuable clue to an underlying genetic disorder and should prompt further diagnostic evaluation. Brachymetatarsia is a rare associated finding that may raise suspicion for Turner syndrome, particularly when diagnosis is delayed despite visible congenital anomalies.