Pseudohypoparathyroidism [PDF]
Endocrinology and Metabolism Clinics of North America, 2018 The term pseudohypoparathyroidism (PHP) refers to a spectrum of rare disorders of mineral metabolism, characterized by features due to end-organ resistance to PTH. The phenotypes of Albright hereditary osteodystrophy (AHO), originally described as associated to the disease, and progressive osseous heteroplasia, can be associated to the endocrine ...
Michael E. Levine +2 more
exaly +6 more sources
Pseudohypoparathyroidism in a Chinese girl: A case report [PDF]
Journal of International Medical ResearchPseudohypoparathyroidism is a rare genetic disorder characterized by hypocalcemia, hyperphosphatemia, and elevated serum intact parathyroid hormone levels.
Xue-Mei Zhao +4 more
doaj +2 more sources
Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders? [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2019 We report a case of transient pseudohypoparathyroidism in a full-term newborn that presented at 20 hours of life with hypocalcemic seizures, hyperphosphatemia and raised parathormone levels. The diagnosis of pseudohypoparathyroidism was made according to
Domenico Umberto De Rose +6 more
doaj +3 more sources
Late-onset atypical pseudohypoparathyroidism type 1A with intracranial calcification and epilepsy associated with a novel GNAS variant: a case report [PDF]
Frontiers in EndocrinologyPseudohypoparathyroidism (PHP) type 1A is a rare inherited disorder characterized by resistance to parathyroid hormone and, typically, features of Albright hereditary osteodystrophy.
Daiping Hua +8 more
doaj +2 more sources
Pattern of height and weight development in a large cohort of underage Chinese pseudohypoparathyroidism patients from a single center [PDF]
Endocrine ConnectionsObjective: Pseudohypoparathyroidism (PHP) is a rare disorder characterized by hypocalcemia and elevated PTH. Although short stature is a key feature, especially in PHP type 1 (PHP1), growth data in Chinese patients remained limited.
Yi Yang +8 more
doaj +2 more sources
Pseudohypoparathyroidism [PDF]
Journal of Clinical and Diagnostic Research, 2014 Beuy Joob, Viroj Wiwanitkit
doaj +3 more sources
Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort [PDF]
MedicinaBackground and Objectives: Inherited disorders of calcium metabolism are rare pediatric conditions with diverse manifestations, including seizures, growth impairment, and renal or skeletal complications.
Ting-Yu Kang +4 more
doaj +2 more sources
Isolated PTH Renal Resistance Pseudo Hypo Parathyroidism 1b: A Rare Cause of Hypocalcemia
Journal of Nepal Medical Association, 2016 A case of Pseudohypoparathyroidism 1b is reported, who presented with signs and symptoms of hypocalcemia. Causes, diagnosis and management with new insight into genetic novel mutations in PHP are discussed.
Aakash Aggarwal +3 more
doaj +3 more sources
Pseudohypoparathyroidism versus signaling disorder: A case report
SAGE Open Medical Case Reports, 2023 Pseudohypoparathyroidism is a terminology used to describe a group of metabolic disorders characterized by parathyroid hormone resistance. Patients with pseudohypoparathyroidism have hypocalcemia, hyperphosphatemia, and elevated serum parathyroid hormone.
Ahmad Abdullah Imam
doaj +1 more source
An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature
Archives of Endocrinology and Metabolism, 2020 SUMMARY Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus ...
José Diogo Ramalho e Silva +2 more
doaj +1 more source