We report the histological findings in a case of hereditary diabetes insipidus (HDI) using vasopressin (VP) immunohistochemistry. The hypothalamus displayed a marked loss of magnocellular VP neurons, with preservation of the smaller cells. The neurohypophysis was severely atrophic with scanty immunoreactivity. Our results support the hypothesis that HDI results from a selective degeneration of VP neurons affecting chiefly the magnocellular elements projecting to the neurohypophysis. The sparing of the parvocellular component may reflect the projection of these neurons to non-pituitary targets.
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http://dx.doi.org/10.1007/BF00305879 | DOI Listing |
Medicine (Baltimore)
January 2025
The Department of Clinical Laboratory, Zhejiang Hospital, Hangzhou, China.
Rationale: Gitelman syndrome (GS) is a rare hereditary electrolyte disorder caused by mutations in the SLC12A3 gene. There is limited literature on the role of hydrochlorothiazide (HCT) testing and the SLC12A3 single heterozygous mutation in the diagnosis and management of patients with GS. In addition, cases of GS with concomitant kidney stones are rare.
View Article and Find Full Text PDFEndocrinol Diabetes Metab Case Rep
January 2025
Summary: Palmoplantar keratoderma (PPK), characterised by excessive epidermal thickening of the skin on the palms and/or plantar surfaces of the feet, can be hereditary or acquired. Here, we report a case of a 53-year-old woman with a history of sub-optimally controlled diabetes mellitus presenting with fevers and decreased Glasgow Coma Scale (GCS) to a tertiary hospital. She was diagnosed with diabetic ketoacidosis (DKA), with blood glucose at 40 mmol/L and ketones at 7 mmol/L, in the setting of a methicillin-sensitive Staphylococcus aureus necrotising soft tissue back infection.
View Article and Find Full Text PDFJ Otol
October 2024
Department of Otolaryngology-Head and Neck Surgery, University of Colorado School of Medicine, Aurora, CO, USA.
Objective: To better understand the clinical phenotype of Ménière's disease (MD), we examined family history, thyroid disorder, migraine, and associated disorders in complaints of people living with MD.
Method: We designed the study as a retrospective and examined data gathered from 912 participants with MD. Their data were originally collected by the Finnish Ménière Federation (FMF).
J Clin Endocrinol Metab
January 2025
Metabolic Diseases Branch, Bldg. 10/Rm 8C-101, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892.
Establishing genotype-phenotype correlations in disorders of hereditary endocrine neoplasia is important for clinical screening, genetic counseling, prognostication, surveillance, and surgical strategy, and may also provide clues about disease pathogenesis. Important genotype-phenotype correlations are recognized, for example, in pheochromocytoma/paraganglioma and multiple endocrine neoplasia type 2A. The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism including multiple endocrine neoplasia type 1 (MEN1), and the hyperparathyroidism-jaw tumor syndrome (HPT-JT).
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ), and University of Zurich (UZH), CH-8091 Zurich, Switzerland.
Context: Pheochromocytomas and paragangliomas (PPGLs) are rare endocrine tumors that frequently produce catecholamines. Catecholamine-induced cardiometabolic complications substantially contribute to increased morbidity and mortality in PPGL patients prior to surgical resection.
Objective: To determine whether markers of elevated cardiometabolic risk persist in patients following PPGL resection.
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