HOME PRODUCTS SERVICES COMPANY CONTACT FAQ

Pseudopseudohypoparathyroidism

Subscribe to New Research on Pseudopseudohypoparathyroidism

A genetically related form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to parathyroid hormone.

Also Known As:

Pseudo-Pseudohypoparathyroidism; Pseudopseudo-Hypoparathyroidism; Pseudo Pseudohypoparathyroidism; Pseudo-Pseudohypoparathyroidisms; Pseudopseudo Hypoparathyroidism; Pseudopseudo-Hypoparathyroidisms; Pseudopseudohypoparathyroidisms

Networked: 105 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Pseudohypoparathyroidism
2.	Hypoparathyroidism
3.	Osteoma
4.	Obesity
5.	Mental Retardation (Idiocy)

Experts

1.	Bastepe, Murat: 4 articles (06/2015 - 01/2005)
2.	Jüppner, Harald: 4 articles (04/2015 - 01/2005)
3.	Izzi, Benedetta: 4 articles (04/2012 - 12/2008)
4.	de Zegher, Francis: 4 articles (04/2012 - 12/2008)
5.	Thys, Chantal: 4 articles (04/2012 - 12/2008)
6.	Van Geet, Chris: 4 articles (04/2012 - 12/2008)
7.	Freson, Kathleen: 4 articles (04/2012 - 12/2008)
8.	Wittevrongel, Christine: 4 articles (04/2012 - 12/2008)
9.	Kottler, Marie-Laure: 3 articles (05/2015 - 09/2013)
10.	Weinstein, Lee S: 3 articles (03/2007 - 06/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pseudopseudohypoparathyroidism:

1.	5-phenylpent-4-enyl-1-hydroperoxideIBA 01/01/1997 - "In this study, we administered tests of odor detection, identification, and memory to (i) 13 patients with Type Ia PHP; (ii) 8 patients with Type Ib PHP; (iii) 7 patients with pseudopseudohypoparathyroidism (PPHP); and (iv) 3 sets of normal controls matched to these groups on the basis of age, gender, and smoking history. " 05/01/2015 - "If the alteration is on the paternal allele, there are few clinical signs with no hormonal resistance and the phenotype is known as pseudopseudo hypoparathyroidism (pseudo-PPHP). " 03/01/2015 - "Paternally inherited inactivating mutations lead to isolated AHO signs characterizing pseudo-pseudohypoparathyroidism (PPHP). " 09/01/2014 - "A 51-year-old Caucasian female had been diagnosed of pseudo-pseudohypoparathyroidism (PPHP) in 1989. " 01/01/2014 - "We reported a 12- year- old girl with unusual clinical manifestations of Pseudopseudohypoparathyroidism(PPHP). "
2.	Albright's hereditary osteodystrophyIBA 02/01/1964 - "PSEUDO-PSEUDOHYPOPARATHYROIDISM (ALBRIGHT'S HEREDITARY OSTEODYSTROPHY): A FAMILY STUDY." 01/01/2013 - "After a Roux-en-Y gastric bypass, patients with Albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism need long-term follow-up on nutritional and metabolic issues." 01/01/2013 - "This is the first case of Roux-en-Y gastric bypass described in a patient with pseudopseudohypoparathyroidism showing that such a procedure seems to be safe in obese patients with Albright hereditary osteodystrophy and pseudopseudohypoparathyroidism if appropriately followed up. " 01/01/2013 - "A 26-year-old obese Caucasian woman with Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism (heterozygous mutation (L272F) in GNAS1 exon 10 on molecular analysis) was treated with gastric bypass. " 01/01/2013 - "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. "
3.	HormonesIBA 03/01/1986 - "To study further the relationship of deficient Gs activity to hormone resistance, we evaluated endocrine function and measured Gs activity of erythrocyte membranes from AHO patients with clinical hormone resistance (PHP type Ia) and from family members with AHO alone (pseudopseudohypoparathyroidism). " 02/01/2015 - "Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS." 04/01/2010 - "Pseudo-pseudohypoparathyroidism has no peripheral resistance to these hormones. " 08/01/2007 - "Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism." 11/01/1990 - "By contrast, other patients with Gs alpha deficiency fail to demonstrate clinical evidence of hormone resistance and are considered to have the related disorder pseudopseudohypoparathyroidism (pseudoPHP). "
4.	Parathyroid Hormone (Parathormone)IBA 08/01/2011 - "Pseudopseudohypoparathyroidism (PPH) is a rare genetic disorder characterized by multiple musculoskeletal anomalies and normal serum calcium, phosphate, and parathyroid hormone levels. " 06/01/2001 - "The same investigations were carried out in the patient's mother who showed somatic features of Albright's hereditary osteodystrophy and brachymetacarpia without resistance to parathyroid hormone (Pseudopseudohypoparathyroidism). " 08/01/2012 - "AHO can be associated with pseudohypoparathyroidism type IA (PHP-IA) with upregulation of parathyroid hormone, whereas in pseudo-pseudohypoparathyroidism (PPHP), an endocrinopathy is not present. " 10/01/2010 - "Pseudohypoparathyroidism type Ia (PHP Ia) comprises the clinical features of AHO associated with parathyroid hormone (PTH) resistance while pseudo-pseudohypoparathyroidism (PPHP) includes AHO features without PTH resistance. " 04/01/2003 - "Maternally derived mutations are usually associated with resistance to parathyroid hormone termed "pseudohypoparathyroidism type Ia." Paternally derived mutations are associated with AHO but usually normal hormone responsiveness, known as "pseudo-pseudohypoparathyroidism." These observations can be explained by tissue-specific GNAS1 imprinting. "
5.	CalciumIBA 07/31/1995 - "We describe 4 unrelated individuals with apparent AHO, associated with small terminal deletions of chromosome 2. All 4 patients had normal serum calcium levels consistent with pseudopseudohypoparathyroidism. " 04/01/2003 - "This mutation was also present in the patient's brother who had similar features and was also treated with thyroid hormone because of CH, and in the phenotypically normal-looking mother who had a normal calcium metabolism but a reduced Gsalpha protein activity in erythrocytes suggestive of pseudopseudohypoparathyroidism. " 02/01/1961 - "Hereditary multiple exostoses, pseudo-pseudohypoparathyroidism and other genetic defects of bone, calcium and phosphorus metabolism." 06/01/1978 - "Based on the estimation of serum calcium and parathyroid hormone (PTH) levels as well as the urinary cAMP response to infusions with parathyroid extract, it was possible to classify all of the patients studied as cases with idiopathic hypoparathyroidism (n = 6, low PTH, normal cAMP response), pseudohypoparathyroidism (PHP) type I (n = 18, high PTH, low cAMP response) and type II (n = 2, high PTH, normal cAMP response), as well as pseudopseudohypoparathyroidism (n = 14, normal PTH, normal cAMP response). " 07/01/1997 - "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 digits, and heterotopic calcifications. "
6.	GTP-Binding Proteins (G-Protein)IBA 09/29/1998 - "We, furthermore, showed that the genetic defect is imprinted paternally and thus is inherited in the same mode as the PTH-resistant hypocalcemia in kindreds with PHP-Ia and/or pseudo-pseudohypoparathyroidism, two related disorders caused by different stimulatory G protein mutations." 05/01/2001 - "Heterozygous inactivating mutations in the GNAS1 exons (20q13.3) that encode the alpha-subunit of the stimulatory G protein (Gsalpha) are found in patients with pseudohypoparathyroidism type Ia (PHP-Ia) and in patients with pseudo-pseudohypoparathyroidism (pPHP). " 10/01/1998 - "Mutations of the GNAS1 gene, which is located on chromosome 20q13.11 and encodes the alpha-subunit of the stimulatory GTP-binding protein, have been identified in patients with pseudohypoparathyroidism type Ia (PHPIa) and pseudopseudohypoparathyroidism (PPHP). " 01/01/1993 - "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 stimulatory G protein of adenylate cyclase, necessary for the action of parathyroid and other hormones using cyclic AMP as an intracellular second messenger. "
7.	Growth Hormone (Somatotropin)IBA 10/01/1993 - "Pseudopseudohypoparathyroidism associated with idiopathic growth hormone deficiency. " 10/01/1992 - "In disproportionate syndromes, such as hypochondroplasia, pseudopseudohypoparathyroidism, spina bifida, and hypophosphataemic rickets, the results of growth hormone therapy are not encouraging. " 04/01/1991 - "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. " 06/01/2007 - "Endocrine or syndromal disorders were diagnosed in 13 children (<1%; 4 with hypothyroidism, 1 with Cushing's syndrome, 1 with growth hormone deficiency, 2 with pseudohypoparathyroidism, 1 with pseudopseudohypoparathyroidism, 2 with Prader-Willi syndrome, 1 with Bardet-Biedl syndrome, 1 with Klinefelter syndrome). "
8.	GuanineIBA 03/01/1998 - "An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism." 03/01/1999 - "Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism." 04/01/1986 - "The activity of stimulatory guanine nucleotide regulatory protein (Ns) in the erythrocyte membrane was assayed by the reconstitution method using plasma membrane of cyc S49 mouse lymphoma cells in 18 patients with type I pseudohypoparathyroidism (PHP-I), 2 with pseudopseudohypoparathyroidism (PPHP) and 30 normal subjects, in parallel with other clinical parameters. " 03/01/1986 - "Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds."
9.	Carrier Proteins (Binding Protein)IBA 03/01/1998 - "An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism." 03/01/1999 - "Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism." 03/01/1986 - "Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds."
10.	Cyclic AMP (AMP, Cyclic)IBA 04/01/1994 - "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. " 01/01/2013 - "PDE4D encodes a cyclic AMP regulator and places PDE4D-related acrodysostosis within the same family of diseases as pseudohypoparathyroidism, pseudopseudohypoparathyroidism, PRKAR1A-related acrodysostosis and brachydactyly-mental retardation syndrome; all characterized by cognitive impairment and short distal extremities." 01/01/1993 - "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 stimulatory G protein of adenylate cyclase, necessary for the action of parathyroid and other hormones using cyclic AMP as an intracellular second messenger. "

Therapies and Procedures

1.	Gastric Bypass (Roux-en-Y Gastric Bypass) 01/01/2013 - "After a Roux-en-Y gastric bypass, patients with Albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism need long-term follow-up on nutritional and metabolic issues." 01/01/2013 - "This is the first case of Roux-en-Y gastric bypass described in a patient with pseudopseudohypoparathyroidism showing that such a procedure seems to be safe in obese patients with Albright hereditary osteodystrophy and pseudopseudohypoparathyroidism if appropriately followed up. " 01/01/2013 - "A 26-year-old obese Caucasian woman with Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism (heterozygous mutation (L272F) in GNAS1 exon 10 on molecular analysis) was treated with gastric bypass. " 01/01/2013 - "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. "
2.	Intravenous Injections 01/01/1994 - "Urine excretion of phosphorus and cyclic adenosine monophosphate (cAMP) markedly increased after intravenous injection of parathyroid hormone, referring to pseudopseudohypoparathyroidism. "
3.	Blood Transfusion (Blood Transfusions) 10/01/2002 - "A patient with acute-onset HAM/TSP after blood transfusion complicated with pseudopseudohypoparathyroidism."
4.	Arthroplasty 08/01/2011 - "Total knee arthroplasty in a patient with pseudopseudohypoparathyroidism."