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Medicina Clinica Dec 2017
Topics: Aged; Delayed Diagnosis; Female; Humans; Pseudohypoparathyroidism
PubMed: 28751084
DOI: 10.1016/j.medcli.2017.06.011 -
Journal of Pediatric Endocrinology &... May 2006The term pseudohypoparathyroidism (PHP) refers to different disorders that are caused by mutations within GNAS or upstream of this complex genetic locus. GNAS gives rise... (Review)
Review
The term pseudohypoparathyroidism (PHP) refers to different disorders that are caused by mutations within GNAS or upstream of this complex genetic locus. GNAS gives rise to several different transcripts, including Gs alpha (alpha-subunit of the heterotrimeric stimulatory G protein), XL alpha s (extra-large variant of Gs alpha), and several additional sense and antisense transcripts. The complexity of the GNAS locus is furthermore reflected by a parent-specific methylation pattern of most of its different promoters. PHP can be divided into two major groups, PHP type Ia (PHP-Ia) and PHP type Ib (PHP-Ib). PHP-Ia is caused by heterozygous mutations affecting one of the 13 GNAS exons encoding Gs alpha. In contrast, PHP-Ib is caused by heterozygous deletions within STX16, the gene encoding syntaxin 16, which is located more than 220 kb upstream of GNAS, or by deletions within GNAS involving exon NESP55 and two of the antisense exons. In either form of PHP, hormonal resistance develops only after maternal inheritance of the mutation, while paternal inheritance of the same molecular defect is not associated with endocrine abnormalities. In most familial cases of PHP-Ib, there is a loss of exon A/B methylation combined with active A/B transcription from both parental alleles, which leads to suppression of Gs alpha transcription in the proximal renal tubules and, therefore, PTH resistance.
Topics: GTP-Binding Protein alpha Subunits, Gs; Humans; Mutation; Ossification, Heterotopic; Pedigree; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism
PubMed: 16789629
DOI: 10.1515/jpem.2006.19.s2.641 -
Paediatrics and International Child... Nov 2018Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a...
Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13.32 which established the diagnosis. Treatment with calcitriol and calcium carbonate led to complete remission of symptoms. Causes of hypocalcaemia should be considered in evaluating patients with movement disorders. The diagnosis of PHP-1B is challenging but the overall prognosis is excellent.
Topics: Adolescent; Blood Chemical Analysis; Brain; Chromosomes, Human, Pair 20; Gene Deletion; Humans; Male; Pseudohypoparathyroidism; Tetany; Tomography, X-Ray Computed
PubMed: 28648114
DOI: 10.1080/20469047.2017.1341730 -
Henry Ford Hospital Medical Journal 1983
Topics: Cyclic AMP; Female; Humans; Male; Parathyroid Hormone; Pseudohypoparathyroidism; X Chromosome
PubMed: 6325373
DOI: No ID Found -
Srpski Arhiv Za Celokupno Lekarstvo 2007Pseudohypoparathyroidism (PHP) is a heterogeneous group of diseases characterized by end organ unresponsiveness to parathormone (PTH), due to receptor or postreceptor...
INTRODUCTION
Pseudohypoparathyroidism (PHP) is a heterogeneous group of diseases characterized by end organ unresponsiveness to parathormone (PTH), due to receptor or postreceptor defects. The characteristic biochemical disturbances include hypocalcaemia, hyperphosphataemia and high serum parathormone levels.
CASE OUTLINE
We present a 17-day-old male baby who was brought to our hospital because of seizures. He was found to have hypocalcaemia, hyperphosphataemia and an elevated serum level of parathyroid hormone. The diagnosis of PHP was based on the elevated serum level of PTH during hypocalcaemia and persistence of normocalcaemia after administering alphacalcidiol with oral calcium. After 4 months of therapy, with tapering of the oral calcium doses, the treatment was discontinued. During the following six months without therapy, the infant did not have seizures and the serum levels of calcium and phosphorus were normal, so we established the final diagnosis of transient neonatal pseudohypoparathyroidism.
CONCLUSION
At the time when the newborn was diagnosed to have PHP, there was no indication whether it was of a permanent or transient form. A considerably lower number of patients have a transitory form of PHP, which is then confirmed in the infant period by a gradual reduction and withdrawal of therapy, with sustaining serum calcium and PTH within normal limits.
Topics: Humans; Infant, Newborn; Male; Pseudohypoparathyroidism
PubMed: 18088043
DOI: 10.2298/sarh0710566j -
Spine Nov 2010A case report and review of previous literature are presented. (Review)
Review
STUDY DESIGN
A case report and review of previous literature are presented.
OBJECTIVE
The objective of this manuscript was to report a case of pseudohypoparathyroidism (PHP) 1a simulating diffuse idiopathic skeletal hyperostosis and resulting in spinal cord compression, and discuss the pathogenesis of this disease.
SUMMARY OF BACKGROUND DATA
Spinal cord compression due to PHP is not common, to the authors' knowledge, none of the previous reported cases simulated diffuse idiopathic skeletal hyperostosis.
METHODS
The patient's history, clinical examination, imaging findings, and treatment were reported; and the pathogenesis was discussed.
RESULTS
Characteristic findings were revealed from imaging studies, a multiplane reconstruction of the computed tomography images, and magnetic resonance imaging. The patient was treated by 2-stage posterior decompression on the basis of the images. A mild improvement was observed after the surgeries and the patient's neurology was not completely restored after 6 months.
CONCLUSION
We reported a rare case of skeletal and ligamentous abnormality resulting in spinal cord compression associated with PHP. A multiplane reconstruction of the computed tomography images was very necessary for diagnosis and treatment of this case. The unfavorable neurologic restoration might be due to the severe injury of the spinal cord caused by diffuse ossification of the posterior longitudinal ligament and ligamentum flavum.
Topics: Adult; Diagnosis, Differential; Humans; Hyperostosis, Diffuse Idiopathic Skeletal; Laminectomy; Male; Pseudohypoparathyroidism; Radiography; Spinal Cord Diseases; Treatment Outcome
PubMed: 20938388
DOI: 10.1097/BRS.0b013e3181e53726 -
Clinical and Experimental Dermatology Mar 2006Osteoma cutis is the formation of normal bone in the skin. Primary osteoma cutis occurs de novo, whereas the secondary type develops in association with the underlying...
Osteoma cutis is the formation of normal bone in the skin. Primary osteoma cutis occurs de novo, whereas the secondary type develops in association with the underlying inflammatory, tumorous or traumatic conditions. Primary osteoma cutis is also associated with Albright's hereditary osteodystrophy (AHO), which can include hypocalcaemic-type pseudohypoparathyroidism (also known as pseudohypoparathyroidism type Ia) or normocalcaemic-type pseudohypoparathyroidism (also known as pseudopseudohypoparathyroidism). We describe a case of osteoma cutis in a 7-year-old boy who had cutaneous, biochemical and phenotypic features of pseudohypoparathyroidism type Ia and AHO.
Topics: Bone Neoplasms; Child; Humans; Male; Osteoma; Pseudohypoparathyroidism; Skin Neoplasms
PubMed: 16487097
DOI: 10.1111/j.1365-2230.2005.02048.x -
QJM : Monthly Journal of the... Dec 2020
Topics: Humans; Parathyroid Hormone; Pseudohypoparathyroidism
PubMed: 32196109
DOI: 10.1093/qjmed/hcaa102 -
Presse Medicale (Paris, France : 1983) Sep 1999TYPE IB PSEUDOHYPOPARATHYROIDISM: Parathormone resistance is the only manifestation of type Ib pseudohyoparathyroidism, the Albright osteodystrophy and multiple hormone... (Review)
Review
TYPE IB PSEUDOHYPOPARATHYROIDISM: Parathormone resistance is the only manifestation of type Ib pseudohyoparathyroidism, the Albright osteodystrophy and multiple hormone resistance described in type Ia are not observed. In type Ib there is a certain preservation of bone sensitivity to parathormone although the main target organ, the kidney, is resistant. Consequently, excessive bone remodeling can be evidenced by X-ray (subperiosteal resorption, fibrocystic osteitis), chemistry (high serum alkaline phosphatase and osteocalcin, and increased urine hydroxyproline), densitometry (lower bone density), and pathology (reduction in trabecular bone volume). The dissociation of the bone and kidney response corresponds to the pseudohypohyperthyroidism described by certain authors. The genetic substratum leading to type Ib pseudohypoparathyroidism remains to be identified. The pathogenic mechanism generally hypothesized concerns a qualitative or quantitative anomaly of the parathormone receptor but seems to be disproved by recent studies. TYPE II PSEUDOHYPOPARATHYROIDISM: Here there is a characteristic lack of a rise in urine phosphorus, signaling parathormone resistance, and stimulated urinary excretion of cyclic AMP, an expression of the integrity of the transmembrane transduction of the parathormone mediated signal and thus protein G and adenylate cyclase. The anomaly could thus involve a transductional effector situated downstream from adenylate cyclase which would explain the symptoms of type II pseudo-hypoparathyroidsm, with both parathormone resistance and Albright osteodystrophy.
Topics: Genotype; Hormones; Humans; Phenotype; Pseudohypoparathyroidism
PubMed: 10518973
DOI: No ID Found -
The Journal of Clinical Endocrinology... Nov 1980Pseudohypoparathyroidism (PHP) is a condition characterized by hypocalcemia, hyperphosphatemia, and an impaired phosphaturic response to exogenous parathormone (PTH). A...
Pseudohypoparathyroidism (PHP) is a condition characterized by hypocalcemia, hyperphosphatemia, and an impaired phosphaturic response to exogenous parathormone (PTH). A minority of patients with PHP have associated bone disease, and in some the radiological appearances have been suggestive of rickets. We report a patient with PHP who had epiphyseal enlargement and bowing of the long bones similar to that seen in rickets. Radiology showed generalized osteomalacia with failure of epiphyseal calcification and several pseudofractures. Bone biopsy showed increased osteoid seams. The phalanges of both hands showed subperiosteal erosions consistent with hyperparathyroidism. Biochemically, he had persistent hypocalcemia, hyperphosphatemia, and an elevated alkaline phosphatase. Plasma calcitonin, magnesium, and 25-hydroxycholecalciferol levels were normal. The 1,25-dihydroxycholecalciferol level was within the normal adult range but was probably inappropriately low for an adolescent. Plasma parathormone was elevated (1.3--1.7 microgram/liter; normal, < 0.73). His diet was not deficient in vitamin D. Gastrointestinal function was normal. Renal function was normal, apart from an increase in the maximum tubular reabsorption of phosphate (46--52.6 mg/liter glomerular filtration rate; normal, 38 +/- 5). Intravenous PTH infusion tests were performed on the patient and a control subject before and 6 months after serum calcium levels had returned to normal. The maximum increases in cAMP excretion in the patient were 0.03 and 0.05 mmol/g creatinine before and after treatment, respectively (control, 0.53 and 0.24); the maximum increases in phosphate excretion in the patient were 0.14 and 0.04 mmol/g creatinine before and after treatment, respectively (control, 0.32 and 0.07). He responded to initial treatment with a high dose of calciferol and later to 1,25-dihydroxycholecalciferol in a dose of 1 microgram/day. It is considered that renal resistance to PTH is his primary abnormality, with the bone disease representing a secondary phenomenon.
Topics: Adult; Calcium; Diagnosis, Differential; Humans; Male; Parathyroid Hormone; Pseudohypoparathyroidism; Rickets; Vitamin D
PubMed: 7419691
DOI: 10.1210/jcem-51-5-1184