pseudopseudohypoparathyroidism

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Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations in the GNAS locus.

..The findings demonstrate the same inherited functional defect of Gs alpha in two female patients with pseudo-PSP and in six of their offspring with PSP. The pathogenesis of clinical hypoparathyroidism remains to be clarified...

..To analyze the frequencies and clinical presentation of definable somatic disorders in children who are overweight...

..activity in patients with AHO and pseudohypoparathyroidism type Ia or without resistance to PTH (pseudopseudohypoparathyroidism)...

..PHP means end-organ resistance to PTH and is subclassified into types Ia, Ib, and Ic and type II. Pseudopseudohypoparathyroidism (PPHP) is a term used for individuals with AHO who have normal end-organ responses to PTH...

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..These three paediatric cases highlight the importance of understanding the aetiology and associations of osteoma cutis in order to appropriately investigate and manage patients who present with this rare skin disease...

..4 years. Regular check-ups of siblings in families with index cases are therefore important. Molecular genetic analyses or biochemical screening for stimulatory guanine nucleotide binding protein defects should be performed...

..mutations (PHP1A) and the absence of TSH resistance in patients with paternal G(s)alpha mutations (pseudopseudohypoparathyroidism)...

..Cutaneous exploration did not show any abnormality. We herein report an unusual case of late-onset scalp calcifications in a patient with PPHP. ..

..The 13 exons of GNAS1 were analysed by PCR and direct sequencing. We identified a heterozygous missense mutation in exon 1. This novel mutation results in a stop at codon 35 and a truncated non-functional GNAS1 protein...

..Patients who exhibit AHO features without evidence for hormone resistance, who are said to have pseudopseudohypoparathyroidism (PPHP), also carry heterozygous inactivating Gsalpha mutations...

The clinical and pathological findings of a 21-year-old girl suffering from pseudopseudohypoparathyroidism (PPHP) with relapsing neuropathy are described...

..of acromegaly, hypercortisolism, hyperthyroidism, hypothyroidism, hyperparathyroidism, pseudo- and pseudopseudohypoparathyroidism, and diabetes mellitus...

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..Therefore, the diagnoses of infantile pseudohypoparathyroidism type Ia and maternal pseudopseudohypoparathyroidism were made. This infant presented with an early manifestation of Albright's hereditary osteodystrophy...

..AHO without hormone resistance is called pseudopseudohypoparathyroidism (PPHP), a rare clinical condition difficult to diagnose with highly variable features...

We report for the first time the case of a patient with Albright hereditary osteodystrophy and pseudopseudohypoparathyroidism who underwent a Roux-en-Y gastric bypass.

Pseudohypoparathyroidism (PHP) is defined as resistance toward parathyroid hormones. PHP and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations within or upstream of the GNAS locus...

We report a 12-year-old child with pseudohypoparathyroidism (PHP) whose mother had pseudopseudohypoparathyroidism. The child had low serum calcium, high phosphorous and high parathormone (PTH) levels...

..Analysis of the GNAS gene identified a short duplication leading to a frameshift mutation. We conclude that linear atrophic skin lesions may be an early sign of imminent cutaneous calcifications in AHO...

..places PDE4D-related acrodysostosis within the same family of diseases as pseudohypoparathyroidism, pseudopseudohypoparathyroidism, PRKAR1A-related acrodysostosis and brachydactyly-mental retardation syndrome; all characterized by ..

..discuss the similarities and differences observed comparing patients with ADOHR and other diseases resulting from defects in the PTHR1 signaling pathway, in particular, pseudohypoparathyroidism type 1a and pseudopseudohypoparathyroidism.

..inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia (POH) when paternally inherited...

..b>Pseudopseudohypoparathyroidism (PPHP) patients with an AHO phenotype and no hormone resistance and progressive osseous heteroplasia (..

..Mutations that cause PHP Ia when maternally inherited can cause POH when paternally inherited. We present an unusual case of a boy with clinical features of both POH and PHP Ia, and a GNAS inactivating mutation...

..In affected kindreds, some members may have AHO but not hormone resistance; they are termed as pseudopseudohypoparathyroidism (PPHP). The molecular basis for the disorder is heterozygous inactivating mutation of the Gsalpha gene...

..This review will focus on inactivating mutations leading to hormone resistance syndromes, i.e., pseudohypoparathyroidism types Ia and Ib...

b>Pseudopseudohypoparathyroidism (PPHP) is caused by the paternally-derived mutation in the coding region of GNAS gene...

..PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism.

..resistance [pseudohypoparathyroidism type 1a (PHP1a)], whereas paternal inheritance leads to AHO alone [pseudopseudohypoparathyroidism (pseudoPHP)]. Classically, the obesity in AHO is described as occurring similarly in both conditions.

..In this article, we present such a case, describe the etiology, characteristics and treatment of AHO and suggest a potential role of an inhibitor of bone formation such as fetuin in preventing recurrence of aberrant ossification...

Pseudohypoparathyroidism type Ia and pseudopseudohypoparathyroidism are characterized by Albright's hereditary osteodystrophy (AHO), respectively, with and without hormone resistance...

An adult woman with pseudopseudohypoparathyroidism had a child with normal calcium and parathyroid hormone concentrations and cyclic AMP response to injected parathyroid hormone in infancy. By 2...

b>Pseudopseudohypoparathyroidism (PPH) is a rare genetic disorder characterized by multiple musculoskeletal anomalies and normal serum calcium, phosphate, and parathyroid hormone levels...

..When inherited paternally, GNAS mutations cause only AHO but not hormonal resistance, termed pseudopseudohypoparathyroidism (PPHP)...

..5-57.7%) in PBMC, 54.5±0.8% (95% CI 53-56.1%) in MAT and 54.1±0.6% (95% CI 53-55.3%) in HT). Maternal ratio differed significantly from the mean (p<0.0001). This phenomenon may be a general feature existing in all tissues...

..heterotopic ossification, such as fibrodysplasia ossificans progressiva, pseudohypoparathyroidism, and pseudopseudohypoparathyroidism. The cause of POH is an inactivating GNAS1 (guanine nucleotide-binding protein alpha-stimulating ..

..disorders, diabetes insipidus, inappropriate antidiuretic hormone secretion; pseudohypoparathyroidism; pseudopseudohypoparathyroidism. The proven endocrine manifestations of the HTLV-1 infection are calcium disorders which occur in some ..

..An AHO phenotype without hormonal resistance is called pseudopseudohypoparathyroidism (PPHP). Osteoma cutis is less common in patients with PPHP than in patients with PHP...

..Pseudo-pseudohypoparathyroidism has no peripheral resistance to these hormones. We present three patients evaluated in our hospital with clinical manifestations of Albright's syndrome...

..mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited...

..The phenotype is known as PHP1b. In the familial forms, these methylation anomalies are associated with a deletion of the syntaxine 16 gene in the maternal allele. This gene contains probably the imprinting center of the locus...

..We report a clinical case of siblings with AHO with reduced Gs-alpha activity and we discuss their clinical features with oral manifestations, radiographic findings, laboratory tests along with treatment...

..Phenotypes resulting from genetic and epigenetic abnormalities of the GNAS region include Albright's hereditary osteodystrophy, pseudohypoparathyroidism types Ia (PHPIa) and Ib (PHPIb), and pseudopseudohypoparathyroidism (PPHP).

..Several mutations were identified in the GNAS1 gene in individuals with PHP-Ia and pseudopseudohypoparathyroidism (PPHP)...

..Involvement of the fourth digits both in hands and feet were more prominent on the left side, with shortening of the left leg...

We describe a patient with pseudopseudohypoparathyroidism who had an osseous tubercle on the anterolateral margin of the foramen magnum causing compression of the spinal cord...

..of physical features, termed Albright's hereditary osteodystrophy (AHO), are present, and pseudopseudohypoparathyroidism (PPHP), in which AHO occurs without PTH resistance...

We report a case of HTLV-1 associated myelopathy (HAM) with pseudopseudohypoparathyroidism (PPHP). A 57-year-old woman, without a history of blood transfusion, was admitted with numbness and pain in her legs...

..Within AHO kindreds, some affected family members have only the somatic features of AHO [pseudopseudohypoparathyroidism (PPHP)], whereas others have these features in association with resistance to multiple hormones that ..

..protein, have been identified in patients with pseudohypoparathyroidism type Ia (PHPIa) and pseudopseudohypoparathyroidism (PPHP)...

..children with osteoma cutis and Albright hereditary osteodystrophy (pseudohypoparathyroidism and pseudopseudohypoparathyroidism) are described...

b>Pseudopseudohypoparathyroidism is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and skeletal abnormalities (referred to as Albright's hereditary osteodystrophy) that include short stature, short ..

..Further investigations of the functions of G alpha s and other members of the GTPase binding protein family will provide more insight into the pathogenesis and clinical manifestations of human disease...

..PHP) who have resistance to PTH and in their eumetabolic family members who have pseudopseudohypoparathyroidism (PPHP)...

..A missense mutation was identified which causes constitutive, ligand-independent receptor activation, and thus explains the laboratory and the growth-plate abnormalities in affected individuals...

..AHO refers to the phenotype of the syndromes of pseudo-hypoparathyroidism (PHP) type Ia and pseudopseudohypoparathyroidism (PPHP), both considered genetically related variants with a defect of the alpha subunit of the ..

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..Such G protein mutations play a role in the pathogenesis of several human diseases, including sporadic endocrine tumors, McCune-Albright syndrome, and Albright hereditary osteodystrophy...

..of all metacarpals and metatarsals and of the second middle hand phalanges, whose diagnosis of pseudopseudohypoparathyroidism (PPHP) was confirmed by laboratory evaluation (normocalcemia, normophosphatemia, normal levels of ..

..It is proved that the pseudoparathyroidism and the pseudopseudohypoparathyroidism are two clinical manifestations of the same affection...

..cAMP) markedly increased after intravenous injection of parathyroid hormone, referring to pseudopseudohypoparathyroidism. Albright's hereditary osteodystrophy is associated either with pseudohypoparathyroidism type 1a ..

..Serum calcium and phosphate and parathyroid concentrations were normal. Myelography demonstrated compression of the cervical and lumbar cord in association with local bony abnormalities...

A 30-year-old male with Albright's hereditary osteodystrophy, pseudopseudohypoparathyroidism, and nephrogenic diabetes insipidus presented with hemifacial spasm persisting for 2 years. This association is extremely unusual...

..Albright's hereditary osteodystrophy and brachymetacarpia without resistance to parathyroid hormone (Pseudopseudohypoparathyroidism). A point mutation designated c...

..C cell dysfunction in PHP, calcitonin assays were performed in six patients with PHP Ia and four with pseudopseudohypoparathyroidism from three unrelated families...

..as pseudohypoparathyroidism type Ia) or normocalcaemic-type pseudohypoparathyroidism (also known as pseudopseudohypoparathyroidism)...

..Calcium and other mineral deposits cannot be linked to a single chromosomal locus. Further genetic studies to identify the chromosomal locus for the disease are in progress...

..These features are also present in pseudopseudohypoparathyroidism (PPHP), but patients affected by this disorder do not show hormone resistance...

..reported cases of terminal 2q37 deletion clinically resemble Albright hereditary osteodystrophy (AHO)/pseudopseudohypoparathyroidism and have only mild-to-moderate mental retardation...

..To identify the molecular defect by which psychomotor retardation is caused in two brothers with congenital hypothyroidism who received adequate treatment with l-thyroxine...

..This cluster of overlapping transcripts represents a useful model system in which to analyze the effects that mutant sequence has on mRNA-in particular, splicing-and the mechanisms of nonsense-mediated mRNA decay...

..mutations in the GNAS1 gene encoding the Gsalpha protein have been identified both in PHP-Ia and in pseudopseudohypoparathyroidism (PPHP), a disorder with isolated AHO...

..To present a case of ossification of the eyelid, episclera and orbit in a patient with pseudo-pseudohypoparathyroidism (pPHP)...

..pseudohypoparathyroidism type IA), while paternal transmission leads only to the AHO phenotype (pseudopseudohypoparathyroidism)...

..Interestingly, paternal transmission of GNAS1 mutations leads to the AHO phenotype alone (pseudopseudohypoparathyroidism), while maternal transmission leads to AHO plus resistance to several hormones (e.g...

..Deletion of the 2q37 region has been implicated in the expression of pseudopseudohypoparathyroidism (PPHP), a disease which shares features of the Albright hereditary osteodystrophy (AHO) phenotype...

..We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family...

A mother with pseudopseudohypoparathyroidism and her short son showed poor spontaneous growth hormone secretion, and provocation tests suggested a deficiency of growth hormone releasing factor...

..The method is described. The differential diagnosis of hypoparathyroid conditions is illustrated by three case histories: hypoparathyroidism, pseudohypoparathyroidism and pseudopseudohypoparathyroidism. All three patients are children.

..and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia...

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..5-year-old girl, with classic AHO phenotype and PHP type 1A associated with a cerebellar pilocytic astrocytoma. Coincidence or genetic relationships of both diseases are discussed according to molecular findings and current literature...

..obesity, round face, brachydactyly) but variable biochemical changes (pseudohypoparathyroidism, pseudopseudohypoparathyroidism)...

..These studies will be helpful in clarifying the biological roles of XLalphas, and may furthermore improve the current understanding of the GNASl-related disorders. ..

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..In Aim 3, we plan to search for additional PTH1R mutations in JMC patients and to assess in these and previously characterized individuals the changes in trabecular and cortical bone formation. ..

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