WebLog Journal of Endocrinology and Diabetes

Turner syndrome (TS) is a rare chromosomal disorder characterized by partial or complete monosomy X. The presence of Y chromosome material, particularly the sex-determining region Y(SRY) gene, has important clinical implications due to the increased risk of gonadoblastoma. We report two cases of young women with Turner syndrome harboring Y chromosome material detected by fluorescence in situ hybridization (FISH), illustrating the phenotypic variability, diagnostic challenges, and therapeutic…

Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by inappropriate parathyroid hormone (PTH) secretion leading to chronic hypercalcemia. Acute pancreatitis is a rare but potentially severe complication of PHPT. We report three cases in which acute pancreatitis was the revealing manifestation of primary hyperparathyroidism. These observations emphasize the importance of systematically investigating metabolic causes, particularly hypercalcemia, in cases of acute…

The synchronous occurrence of laryngeal squamous cell carcinoma (LSCC) and papillary thyroid carcinoma (PTC) is rare and is most often discovered incidentally on histopathological examination of surgical specimens. We report a series of four cases illustrating this uncommon association, focusing on clinical presentation, histological findings, therapeutic management, and outcomes. Prognosis mainly depends on the laryngeal squamous cell carcinoma, while papillary thyroid carcinoma generally…

The association between primary hyperparathyroidism (PHPT) and non-medullary thyroid carcinoma is rare and is most often discovered incidentally during surgical exploration or histopathological examination. We report a case series of three patients presenting with thyroid carcinoma associated with primary hyperparathyroidism. We describe the clinical presentation, imaging findings, surgical management, and histopathological features. This coexistence raises pathophysiological questions and…

Wolfram Syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare neurodegenerative disorder [1, 2]. This condition features symptoms that typically appear progressively from childhood through adulthood [3, 4, 5]. Diagnosis is based on specific clinical criteria and confirmed by genetic testing for mutations in the WFS1 gene [6, 7]. Insulin therapy remains the mainstay treatment for diabetes mellitus, but incretin analogs may provide…

Introduction: Hungry Bone Syndrome (HBS) is a rare but potentially severe metabolic complication following parathyroidectomy, occurring mainly in patients with severe primary hyperparathyroidism (PHPT) and high bone turnover [1–3].

Case Reports: We report two cases of HBS occurring after parathyroidectomy for advanced primary hyperparathyroidism. Both patients presented with marked preoperative hypercalcemia, very high parathyroid hormone (PTH)…

Introduction Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of monogenic diabetes characterized by a primary defect in insulin secretion. It is a rare form of diabetes caused by autosomal dominant mutations, usually non-autoimmune and non-ketotic [1, 2]. The diagnosis of MODY is often overlooked in resource-limited countries, notably due to the frequent unavailability of genetic testing [3].

This study reports a series of 12 suspected MODY diabetes cases…

Latent autoimmune diabetes in adults (LADA) is an autoimmune form of diabetes situated between classical type 1 diabetes (T1D) and type 2 diabetes (T2D). It typically affects older adults and progresses more slowly toward insulin dependence. We report three cases of elderly female patients presenting with inaugural diabetic ketosis revealing slowly progressive type 1 diabetes. These observations highlight the diagnostic challenges and clinical features of this still poorly understood entity…

Introduction Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder caused by mutations in several genes involved in low-density lipoprotein (LDL) metabolism [1, 2]. It is characterized by an isolated increase in LDL cholesterol and is associated with a high risk of premature cardiovascular disease [3].

This condition is often underdiagnosed and undertreated, especially in resource-limited countries where genetic testing is less accessible…

Primary hyperparathyroidism corresponds to inappropriate overproduction of parathyroid hormone. It is a predominantly female disease and is often asymptomatic. Diagnosis is based solely on biological findings, and curative treatment is surgical.

This is a retrospective observational study including 83 patients hospitalized and followed for primary hyperparathyroidism in the endocrinology departments of the University Hospital Center of Rabat and Mohamed V Military Hospital over a…