JCEM case reports

We report the case of a pregnant woman with coexisting pathogenic hepatocyte nuclear factor 4 alpha (HNF4A) and insulin receptor (INSR) gene variants. A 25-year-old lean Caucasian gravida 1, para 0 (G1P0) woman with a history of early-onset…

Medullary thyroid carcinoma (MTC) during pregnancy is rare and challenging to manage due to its aggressive nature. We describe the successful diagnosis and management of MTC during pregnancy. A 28-year-old woman, who was 5 weeks pregnant, p…

Progestogen hypersensitivity (PH) is a rare and underrecognized condition characterized by cyclical allergic reactions to endogenous or exogenous progestogens. We present a 27-year-old woman with an 11-year history of recurrent luteal-phase…

Non-classic P450 oxidoreductase deficiency (NC-PORD) is a rare form of congenital adrenal hyperplasia that may remain unrecognized until adulthood. While infertility in patients already diagnosed with P450 oxidoreductase deficiency (PORD) h…

Glucagon-like peptide-1 (GLP-1) and dual GLP-1/glucose-dependent insulinotropic polypeptide (GIP) receptor agonists are increasingly prescribed for obesity and type 2 diabetes, but eyelid gland pathology has not previously been reported wit…

A 54-year-old female individual with a history of hyperlipidemia, hypothyroidism, latent autoimmune diabetes of the adult (LADA) with hypoglycemia unawareness, vitiligo, and asthma presented with exercise-limiting pleuritic chest pain and d…

Testosterone is commonly measured using immunoassays in clinical practice; however, these methods are subject to analytical interference in both men and women. In women, due to physiologically lower testosterone levels, even modest elevatio…

Gender-affirming hormone therapy (GAHT) is increasingly prescribed to transgender men and gender diverse individuals to better align their affirmed gender identity and somatic phenotype, aiming to improve psychosocial well-being. However, t…

Asymptomatic primary hyperparathyroidism (PHPT) is often missed in developing nations due to limited formal healthcare exposure and biochemical screening programs. Many patients are thus only diagnosed once symptomatic. We present a 32-year…

Secondary adrenal insufficiency is a life-threatening condition that may arise in the setting of iatrogenic Cushing syndrome. Intra-articular corticosteroid injections (IACs) are a standard treatment for osteoarthritis, and they carry a hig…

Autoimmune polyglandular syndrome 1 (APS1) is an autosomal recessive disorder due to biallelic pathogenic variants in the autoimmune regulator (AIRE) gene that manifests with chronic mucocutaneous candidiasis, primary hypoparathyroidism, an…