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QJM : Monthly Journal of the... Jun 2024
Topics: Humans; Pseudohypoparathyroidism; Skin Diseases, Genetic; Ossification, Heterotopic; Female; Male; Bone Diseases, Metabolic
PubMed: 38265255
DOI: 10.1093/qjmed/hcae017 -
Journal of Pediatric Endocrinology &... Nov 2020Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to...
Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) concentrations as the result of end-organ unresponsiveness to PTH. Case presentation We present a 14-year-old boy, who was admitted with severe symptomatic hypocalcaemia, absence of dysmorphic features and Albright's hereditary osteodystrophy features. Laboratory investigations revealed markedly low serum calcium, high phosphate, markedly elevated PTH levels and vitamin D insufficiency, while magnesium, albumin, ALP and TSH were normal. The clinical and laboratory findings were consistent with PHP1B. Molecular analysis revealed loss of methylation at the AB DMR of the GNAS locus, confirming the diagnosis. Yet no STX16 deletion was detected. Conclusions It is possible that delSTX16- patients carry a defect in an element that controls the methylation both at the GNAS-A/B DMR and at the GNAS-AS2. This rare case emphasizes the need of individualized molecular analysis in PHP1B patients in order to elucidate the possible molecular defect.
Topics: Adolescent; Age Factors; Chromogranins; DNA Methylation; GTP-Binding Protein alpha Subunits, Gs; Greece; Humans; Male; Pseudohypoparathyroidism; Rare Diseases
PubMed: 33027051
DOI: 10.1515/jpem-2020-0192 -
Archives de Pediatrie : Organe Officiel... 1997
Review
Topics: Child; Diagnosis, Differential; GTP-Binding Protein alpha Subunits, Gs; GTP-Binding Proteins; Humans; Pseudohypoparathyroidism
PubMed: 9246311
DOI: 10.1016/s0929-693x(97)86469-x -
Indian Journal of Pediatrics 1998A 13 year old girl with short stature, and retarded mental growth with coarse facies and deranged thyroid function test was initially suspected as a case of...
A 13 year old girl with short stature, and retarded mental growth with coarse facies and deranged thyroid function test was initially suspected as a case of hypothyroidism and was started on thyroxine. Lack of response to treatment and on further investigations it was diagnosed as a case of pseudohypoparathyroidism. High index of suspicion and careful evaluation is important to diagnose such an entity.
Topics: Adolescent; Basal Ganglia Diseases; Calcinosis; Diagnosis, Differential; Female; Fibrous Dysplasia, Polyostotic; Humans; Pseudohypoparathyroidism; Tomography, X-Ray Computed
PubMed: 10772004
DOI: 10.1007/BF02761150 -
Clinical Calcium Aug 2007Pseudohypoparathyroidism type I b is characterized by unresponsiveness solely to parathyroid hormone in contrast to pseudohypoparathyroidism type I a which induces... (Review)
Review
Pseudohypoparathyroidism type I b is characterized by unresponsiveness solely to parathyroid hormone in contrast to pseudohypoparathyroidism type I a which induces resistance to several hormones. Abnormal imprinting of GNAS gene which encodes Gsalpha protein is considered to be responsible for pseudohypoparathyroidism type Ib. Actually, several deletions were reported in the upstream region of GNAS gene. These deletions are considered to cause reduced expression of Gsalpha protein in renal proximal tubules. However, the detailed mechanism how these deletions cause abnormal imprinting of GNAS gene remains to be elucidated. Analysis of pathogenesis of pseudohypoparathyroidism type Ib should contribute to the understanding of regulatory mechanisms of gene expression.
Topics: Chromogranins; GTP-Binding Protein alpha Subunits, Gs; Gene Deletion; Gene Expression; Genomic Imprinting; Humans; Parathyroid Hormone; Pseudohypoparathyroidism
PubMed: 17660619
DOI: No ID Found -
Endocrinologia, Diabetes Y Nutricion Jan 2022
Topics: Calcinosis; Humans; Pseudohypoparathyroidism
PubMed: 35232562
DOI: 10.1016/j.endien.2020.09.008 -
The Journal of the Association of... Feb 2000
Topics: Adolescent; Humans; Male; Pseudohypoparathyroidism
PubMed: 11229161
DOI: No ID Found -
Indian Pediatrics Dec 1992
Topics: Basal Ganglia Diseases; Calcinosis; Child, Preschool; Female; Humans; Pseudohypoparathyroidism
PubMed: 1291501
DOI: No ID Found -
The Johns Hopkins Medical Journal Sep 1982The current understanding of the adenylate cyclase complex has permitted us to regard PHP has a heterogeneous group of disorders related to each other through the common...
The current understanding of the adenylate cyclase complex has permitted us to regard PHP has a heterogeneous group of disorders related to each other through the common feature of resistance to PTH. Patients may present with hormone resistance limited to PTH, or with a metabolic disorder attributable to the resistance of multiple tissues to hormones that activate adenylate cyclase. The majority of the latter patients show deficient G-unit activity. The clinical expression of multiple hormone resistance in patients with the G-unit defect appears to be rather variable, despite an identical quantitative defect; hormone resistance seems incomplete, and patients may be hypocalcemic despite the presence of hyperparathyroid bone disease. It is therefore likely that the detailed biochemical study of patients with PHP may ultimately reveal a multiplicity of abnormalities in the hormone-receptor adenylate cyclase system that will explain the variability of hormone resistance.
Topics: Adenylyl Cyclases; Bone and Bones; Cyclic AMP; Female; GTP-Binding Proteins; Humans; Kidney; Male; Middle Aged; Parathyroid Hormone; Pseudohypoparathyroidism; Radiography; Receptors, Cell Surface
PubMed: 6287085
DOI: No ID Found -
Polish Archives of Internal Medicine Feb 2022
Topics: Chromogranins; GTP-Binding Protein alpha Subunits, Gs; Humans; Mutation; Pseudohypoparathyroidism
PubMed: 34851063
DOI: 10.20452/pamw.16153