This case report describes a 14-year-old girl with coeliac disease who presented with severe hypercalcaemia due to a parathyroid adenoma, which resolved after its excision.
3 citations
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April 2017 in “Medicine” This case report describes a rare instance of pediatric idiopathic hypoparathyroidism in an 11-year-old Saudi boy, characterized by extensive cranial calcifications beyond the basal ganglia, with no other neurological abnormalities.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.
50 citations
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January 1941 in “Annals of Internal Medicine” Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
20 citations
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January 2012 in “Indian Journal of Endocrinology and Metabolism” This study found that 76.19% of patients with acquired hypoparathyroidism had mucocutaneous manifestations, with common features including loss of hair and xerotic skin.
May 2025 in “Hormone Research in Paediatrics” This case study described a girl with vitamin D-dependent rickets type 2A who developed long-standing tertiary hyperparathyroidism, yet this did not hinder the healing of her rickets or normalization of hypophosphatemia; high doses of intravenous calcium were pivotal for recovery.
May 2021 in “Journal of the Endocrine Society” This case report describes the rare association of an ovarian Leydig cell tumor and primary hyperparathyroidism in a postmenopausal woman, highlighting the importance of considering rare causes in patients with virilizing symptoms.
March 2021 in “AACE clinical case reports” This case study reports a rare combination of primary hyperparathyroidism with Klinefelter syndrome in a 44-year-old male, highlighting an unusual KS mosaicism with a mild phenotype.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
519 citations
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October 1998 in “Endocrinology” The study found that normalizing mineral ion levels in vitamin D receptor-ablated mice prevented hyperparathyroidism and bone disorders but did not address hair loss, indicating the VDR's role in hair growth.
119 citations
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October 1998 in “Endocrinology” This study found that normalizing mineral ion levels in vitamin D receptor-ablated mice prevented hyperparathyroidism, rickets, and osteomalacia, but alopecia persisted, indicating a separate role for the receptor in hair growth.
2 citations
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January 2012 in “PubMed” This case report describes an adolescent with coeliac disease presenting severe hypercalcaemia from a parathyroid adenoma, suggesting possible links between coeliac disease and hyperparathyroidism.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” This case report highlights the need to assess postmenopausal women with hirsutism for hyperandrogenism causes, as exemplified by a Leydig cell tumor coinciding with primary hyperparathyroidism.
December 2014 in “Endocrinología y nutrición” The woman's rare combination of diseases suggests an unknown factor may predispose individuals to multiple endocrine diseases.
550 citations
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January 2012 in “Oxford University Research Archive (ORA) (University of Oxford)” This study found that lithium treatment for mood disorders is associated with risks of hypothyroidism, hyperparathyroidism, and reduced urinary concentrating ability, but the risk of significant renal failure is low.
31 citations
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May 1960 in “A M A Journal of Diseases of Children” This report details the treatment of hyperparathyroidism in an 11-year-old girl through the removal of a parathyroid adenoma and reviews related pediatric cases; no new clinical outcomes are presented.
10 citations
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December 2015 in “Clinics in Dermatology” This review highlights the eye and skin manifestations of endocrine-related metabolic diseases but provides no new clinical results.
8 citations
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December 1981 in “Journal of The American Academy of Dermatology” This review addresses clinical findings in parathyroid disease and discusses the metabolism of calcium, phosphorus, vitamin D, and parathyroid hormone, reporting no new results.
4 citations
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November 2019 in “Harper's Textbook of Pediatric Dermatology” This article reviews the skin, hair, nail, and mucosal changes linked to various pediatric endocrine disorders but provides no new clinical findings.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.
October 2025 in “Journal of the Endocrine Society” In this case report, an 80-year-old woman experienced elevated alkaline phosphatase levels due to the use of Viviscal hair supplements. Her levels returned to normal after discontinuing the supplement, highlighting the need for clinicians to consider supplements as potential causes of abnormal lab results.
March 2025 in “FEBS Journal” This study found that Epiprofin acts as a negative regulator of parathyroid hormone transcription, with potential implications for controlling PTH production in hyperparathyroidism.
January 2016 in “Dermatology Review” This review details various skin manifestations linked to different endocrine disorders but does not report any new clinical results.
62 citations
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January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
26 citations
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September 2009 in “Clinical genetics” This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
6 citations
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January 2011 in “PubMed” This paper reviews hair loss associated with various endocrine disorders and describes both traditional and emerging non-invasive diagnostic methods without presenting any new clinical results.
September 2024 in “Clinical Case Reports” This case report highlights a rare presentation of APS-1 in a 28-year-old Pakistani male with cardiovascular and pulmonary symptoms, illustrating the importance of early recognition and multidisciplinary management for improved patient outcomes.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
January 2017 in “IMC Journal of Medical Science” This case report describes a 26-year-old man from Bangladesh diagnosed with autoimmune polyendocrine syndrome type 1, a rare endocrine disorder involving adrenocortical insufficiency, hypoparathyroidism, and mucocutaneous candidiasis.