Gitelman syndrome(GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterised by hypokalaemia, hypomagnesaemia, hypocalciuria and secondary hyperaldosteronism. Hypercalcaemia due to hypocalciuria in these patients is extremely rare.A 25-year-old healthy woman was referred to the Endocrinology clinic for evaluation of persistent hypokalaemia. She presented with fatigue, myalgias, cramps and paraesthesia. Her physical examination was normal. Laboratory workup revealed: K 2.7 mEq/L (r.v.3.5-5.1), 24 hours urinary K 84.7 mEq/24 hours (r.v.25-125), Mg 0.71 mg/dL (r.v.1.6-2.6), 24 hours urinary Mg 143.1 mg/24 hours (r.v.73-122), Ca 12 mg/dL (r.v.8.4-10.2), aldosterone 47.1 ng/mL (r.v. 4-31) and active renin 374.7 uUI/mL (r.v.4.4-46.1). She was diagnosed with GS and was treated with spironolactone, oral K and Mg supplementation. Further investigation confirmed hypercalcaemia due to primary hyperparathyroidism owing to a single parathyroid adenoma. Following parathyroidectomy serum calcium normalised.Current knowledge favours that hypomagnesaemia in patients with GS protects them from hypercalcaemia. In this context of multiple electrolyte imbalances, correction of hypomagnesaemia is a challenge and should be done carefully. Like in our patient, aetiology of hypercalcaemia should be promptly diagnosed and reversed.
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http://dx.doi.org/10.1136/bcr-2017-223663 | DOI Listing |
Front Endocrinol (Lausanne)
December 2024
Diabetes Center, Ohta Nishinouchi Hospital, Koriyama, Fukushima, Japan.
Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder, accompanied by multiple endocrine neoplasms of the parathyroid, pancreas, pituitary, and other neoplasms in the adrenal glands. However, in some cases, patients clinically diagnosed with MEN1 may be genotype-negative.
Case Presentation: A 56-year-old female was diagnosed with MEN1 based on a macroprolactinoma (19 mm in diameter), primary hyperparathyroidism, and a cortisol-producing adrenal adenoma, without a family history.
JAMA Otolaryngol Head Neck Surg
December 2024
Department of Health Methods, Evidence, and Impact, McMaster University, Hamilton, Ontario, Canada.
Importance: Intraoperative parathyroid hormone (IOPTH) monitoring is recommended by the American Association of Endocrine Surgeons for use during parathyroidectomy for patients with primary hyperparathyroidism (PHPT), but there is no clinician consensus regarding the IOPTH monitoring criteria that optimize diagnostic accuracy.
Objective: To evaluate and rank the diagnostic properties of IOPTH monitoring criteria used during surgery for patients with PHPT.
Data Sources: A bayesian diagnostic test accuracy network meta-analysis (DTA-NMA) was performed, in which peer-reviewed citations from January 1, 1990, to July 22, 2023, were searched for in MEDLINE, Embase, Web of Science, CENTRAL, and CINAHL.
Front Endocrinol (Lausanne)
December 2024
Department of Endocrine Surgery, University College London Hospital, London, United Kingdom.
Background: Surgery is the preferred treatment for primary hyperparathyroidism. Minimally invasive parathyroidectomy is only feasible with accurate preoperative localisation. Virtual 3D anatomical models can be constructed from patient-specific CT scans using segmentation software.
View Article and Find Full Text PDFCureus
November 2024
Diabetes and Endocrinology, University Hospitals Plymouth National Health Service (NHS) Trust, Plymouth, GBR.
Primary hyperparathyroidism (PHPT) typically presents with a spectrum of symptoms, including neuropsychiatric manifestations such as anxiety, depression, confusion, and, in severe cases, coma. While psychiatric symptoms are not uncommon in PHPT, acute psychosis is a rare presentation. In such cases, immediate control of serum calcium levels is crucial, and emergency parathyroidectomy may be required if medical management alone fails to control hypercalcemia.
View Article and Find Full Text PDFEndocrine
December 2024
Endocrine Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Purpose: Primary hyperparathyroidism (PHPT) is associated with long-term implications on many aspects of general health and has been linked to various tumor types. This retrospective monocentric study aimed to evaluate the prevalence of primary hyperparathyroidism in a cohort of thyroid cancer patients and its impact on their general prognosis.
Methods: The prevalence of primary hyperparathyroidism (concomitant or subsequent) was retrospectively evaluated in a cohort of 450 patients with a diagnosis of differentiated thyroid cancer.
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