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
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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 A Levine +2 more
exaly +6 more sources
Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant
Children, 2022 Pseudohypoparathyroidism (PHP) is a rare, heterogeneous disorder characterized by end-organ resistance to parathyroid hormone (PTH). PTH resistance causes elevated PTH levels, hypocalcemia, and hyperphosphatemia.
Su Kyeong Hwang +3 more
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
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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
Frontiers in Physiology, 2018 Background: Dental aberrations have been mentioned in relation to non-surgical hypoparathyroidism (Ns-HypoPT) and pseudohypoparathyroidism (PHP). However, a systematic review of dental characteristics have not been performed.
Jane Hejlesen +8 more
doaj +3 more sources
Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism [PDF]
Endocrinology, Diabetes & Metabolism Case ReportsShort stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children.
Ragini Kondetimmanahalli +4 more
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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 +1 more source
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