Pseudohypoparathyroidism

A hereditary condition clinically resembling HYPOPARATHYROIDISM, but caused by failure of response to rather than deficiency of parathyroid hormones. It is characterized by hypocalcemia and hyperphosphatemia, and is commonly associated with short stature, obesity, short metacarpals, and ectopic calcification. (Dorland, 27th ed)

Also Known As:

Networked: 551 relevant articles (4 outcomes, 23 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hypoparathyroidism
2.	Hypocalcemia
3.	Primary Hyperparathyroidism
4.	X-Linked Dominant Hypophosphatemic Rickets (X-Linked Hypophosphatemia)
5.	Ectromelia (Phocomelia)

Experts

1.	Bastepe, Murat: 20 articles (06/2015 - 09/2003)
2.	Jüppner, Harald: 17 articles (10/2015 - 09/2003)
3.	Mantovani, Giovanna: 12 articles (05/2015 - 09/2003)
4.	Hiort, Olaf: 11 articles (03/2015 - 04/2005)
5.	Germain-Lee, Emily L: 9 articles (07/2015 - 08/2002)
6.	Weinstein, Lee S: 9 articles (03/2014 - 06/2002)
7.	Spada, Anna: 8 articles (04/2014 - 09/2003)
8.	Levine, Michael A: 8 articles (01/2011 - 08/2002)
9.	Thiele, Susanne: 7 articles (03/2015 - 05/2007)
10.	Beck-Peccoz, Paolo: 7 articles (04/2014 - 09/2003)

Drugs and Biologics

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

1.	Parathyroid Hormone (Parathormone)IBA 12/01/1988 - "The metatarsal cytochemical bioassay of parathyroid hormone: validation, specificity, and application to the study of pseudohypoparathyroidism type I." 12/01/2015 - "Pseudohypohyperparathyroidism (PHHP) is a rare type of pseudohypoparathyroidism (PHP), which seems to have a normal skeletal response to parathyroid hormone but shows renal resistance. " 07/01/2015 - "Pseudohypoparathyroidism (PHP) is a genetic disorder due to target-organ unresponsiveness to parathyroid hormone (PTH). " 04/01/2015 - "Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. " 04/01/2015 - "Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). "
2.	Vitamin DFDA LinkGeneric 08/01/1985 - "We examined characteristics of circulating PTH in three patients with pseudohypoparathyroidism type I. All patients were normocalcemic while receiving vitamin D therapy at the time of study. " 02/01/1992 - "Patients with pseudohypoparathyroidism (PHP) type I, mostly under treatment with active vitamin D, exhibited wide distribution of serum intact PTH concentration, and appeared to belong to two distinct subgroups. " 01/01/1986 - "Patients with pseudohypoparathyroidism, on small doses of vitamin D, had a normal renal ultrasound. " 08/01/1985 - "Exclusion of vitamin D depletion should be an additional diagnostic criterion for pseudohypoparathyroidism type II." 01/01/1978 - "This led us to the conclusion that the disturbances of vitamin-D-metabolism in pseudohypoparathyroidism type I is heterogenous."
3.	CalciumIBA 01/01/2014 - "Prolonged spontaneous normocalcaemia in pseudohypoparathyroidism from resorption of soft tissue calcium deposits: a cautionary tale." 06/01/2011 - "This is the first description of a case of pseudohypoparathyroidism without Albright's stigma, with cerebral calcification, and no calcium abnormalities at the initial clinical manifestation." 06/01/2011 - "First description of pseudohypoparathyroidism with frontal lobe calcification and normal serum calcium at the initial manifestation in an otherwise healthy seven-year-old girl." 11/01/2010 - "A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels." 07/01/2000 - "Pseudohypoparathyroidism is a very rare condition and systolic LV dysfunction for which hypocalcaemia is responsible, would seem to be totally reversible after calcium supplementation."
4.	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 04/01/2014 - "Pseudohypoparathyroidism type Ib (PHP-Ib) is a rare imprinting disorder characterized by end-organ resistance to PTH and, frequently, to thyroid-stimulating hormone. " 01/20/1977 - "Because thyrotropin deficiency may occur in pseudohypoparathyroidism, we studied pituitary function in two families with this condition. " 12/01/2008 - "Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state." 09/01/2007 - "Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib." 05/01/2006 - "Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism."
5.	GonadotropinsIBA 05/01/1988 - "A case of a thirty-eight year old man with pseudohypoparathyroidism (PHP) type 1 associated with gonadotropin resistance and hypercalcitoninaemia was reported. " 05/01/1988 - "A case of pseudohypoparathyroidism type 1 associated with gonadotropin resistance and hypercalcitoninaemia." 12/01/2004 - "Maternally inherited mutations lead to Albright hereditary osteodystrophy (AHO) plus PTH, TSH, and gonadotropin resistance (pseudohypoparathyroidism type 1A), whereas paternally inherited mutations lead to AHO alone. " 07/01/2000 - "Gonadotropin-dependent sexual precocity in a boy affected by pseudohypoparathyroidism." 02/01/1982 - "Improvement in abnormal secretion of thyrotropin and gonadotropin after restoration of serum calcium is pseudohypoparathyroidism."
6.	1,25-dihydroxyvitamin DIBA 01/01/1999 - "Effectiveness of 1,25-dihydroxyvitamin D supplementation on blood pressure reduction in a pseudohypoparathyroidism patient with high renin activity." 12/01/1982 - "1,25-Dihydroxyvitamin D production stimulated by dibutyryl 3', 5'-cyclic AMP in normal subjects and a patient with pseudohypoparathyroidism." 11/01/1981 - "The effect of dibutyryl cAMP on plasma concentrations of 1,25-dihydroxyvitamin D [1,25-(OH)2D] was studied in two patients with pseudohypoparathyroidism (PHP) type I, five normal adults, and three normal children as controls. " 11/01/1981 - "Effect of dibutyryl adenosine 3',5'-monophosphate administration on plasma concentrations of 1,25-dihydroxyvitamin D in pseudohypoparathyroidism type I." 12/01/1980 - "Effect of parathyroid hormone on 1,25-dihydroxyvitamin D formation in type I pseudohypoparathyroidism."
7.	Albright's hereditary osteodystrophyIBA 10/01/2011 - "A PubMed search was used to identify the available studies (main query terms: pseudohypoparathyroidism; Albright hereditary osteodystrophy; GNAS; GNAS1; progressive osseous heteroplasia). " 02/01/2005 - "Pseudohypoparathyroidism associated with Albright's hereditary osteodystrophy was diagnosed by biochemical, hormonal and radiographic studies. " 01/01/2002 - "We conducted clinical and biological studies including screening for mutations in the gene encoding the alpha subunit of G(s) (GNAS1) in 30 subjects (21 unrelated families) with Albright's hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP); and decreased erythrocyte G(s) activity (PHP-Ia; n = 19); AHO and decreased erythrocyte G(s) activity (isolated AHO; n = 10); or AHO, hormonal resistance, and normal erythrocyte G(s) activity (PHP-Ic; n = 1). " 07/01/2015 - "Reports of patients with mild POH with Albright hereditary osteodystrophy (AHO), specifically pseudohypoparathyroidism type Ia (PHP Ia) with hormonal resistance, suggest the possibility of a common molecular basis. " 06/01/2014 - "We describe a Chinese woman and her son, who presented with different symptoms of pseudohypoparathyroidism and clinically manifested different degree of Albright's hereditary osteodystrophy. "
8.	HormonesIBA 05/01/2006 - "Consistent with the observation that only maternally inherited mutations lead to resistance to hormone action (pseudohypoparathyroidism type Ia [PHP-Ia), recent studies have provided evidence for a predominant maternal origin of Gs alpha transcripts in endocrine organs, such as thyroid, gonad and pituitary. " 09/01/2003 - "Consistent with the observation that only maternally inherited mutations lead to resistance to hormone action [pseudohypoparathyroidism type Ia (PHP Ia)], recent studies provided evidence for a predominant maternal origin of Gs alpha transcripts in endocrine organs, such as thyroid, gonad, and pituitary. " 09/10/1991 - "[Hormone resistance syndrome: studies on pseudohypoparathyroidism]." 06/01/2015 - "Microdeletions that alter GNAS methylation and, thereby, diminish Gsα expression in tissues in which the paternal Gsα allele is normally silenced also cause hormone resistance, which occurs typically in the absence of AHO, a disorder termed pseudohypoparathyroidism type-Ib. " 10/01/2013 - "Pseudohypoparathyroidism (PHP) is defined as resistance toward parathyroid hormones. "
9.	Adenylate Cyclase (Adenylyl Cyclase)IBA 08/14/1986 - "Studies using frog neuroepithelium indicate that the sense of smell is mediated by a Gs-adenylate cyclase system, and this prompted us to test olfaction in the only known model of Gs deficiency in the animal kingdom, Gs-deficient (type 1a) pseudohypoparathyroidism (PHP), which occurs in humans. " 02/01/1983 - "Recent studies have established that some patients with pseudohypoparathyroidism have a deficiency of the adenylate cyclase regulatory protein (the G unit) in plasma membranes from erythrocytes, platelets, and fibroblasts. " 05/01/1998 - "Most patients with AHO are found in a family of pseudohypoparathyroidism type-Ia and have a heterozygous mutation that inactivates the alpha-subunit of Gs (Gs alpha), the stimulatory regulator of adenylyl cyclase. " 08/01/1989 - "New form of pseudohypoparathyroidism with abnormal catalytic adenylate cyclase." 12/01/1988 - "Clinical investigation of olfactory and auditory function in type I pseudohypoparathyroidism: participation of adenylate cyclase system."
10.	Cyclic AMP (AMP, Cyclic)IBA 08/01/1995 - "To diagnose pseudohypoparathyroidism type I, intravenous human PTH (1-34) infusions were performed; however, they showed brisk responses of plasma and/or urine cyclic AMP in response to the PTH infusion, but the phosphaturic response to the PTH was sluggish compared to the controls. " 09/18/1993 - "These patients were diagnosed according to the responses of cyclic AMP of type I pseudohypoparathyroidism. " 01/01/1978 - "Urinary phosphate and cyclic AMP in pseudohypoparathyroidism." 11/15/1973 - "Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal." 02/01/1982 - "The results indicate a dissociation between normal and cyclic AMP excretion and disturbed renal handling of phosphate which resembles type II pseudohypoparathyroidism suggesting an anticonvulsant drug related inhibition of cyclic AMP-induced phosphaturia. "

Therapies and Procedures

1.	Aftercare (After-Treatment) 01/01/2014 - "We report a symptomatic paediatric case of hypocalcaemia, the clinical features of which, and the course after treatment, suggest that it is most probably a case of pseudohypoparathyroidism type Ib." 09/01/1993 - "Resistance to the renal actions of parathyroid hormone (PTH) in pseudohypoparathyroidism (PsH) may be improved after treatment with vitamin D or its metabolites, but reports conflict. " 06/01/1980 - "These data were compared to those observed in a group of patients with pseudohypoparathyroidism before and after they became normocalcemic after treatment with vitamin D and calcium. " 02/01/1981 - "In order to clarify the complex interrelationship between serum calcium, 1,25-dihydroxyvitamin D (1,25(OH)2D), and parathyroid hormone (PTH), and the urinary excretion of cyclic AMP (cAMP) in response to exogenous PTH in pseudohypoparathyroidism (PHP) and related diseases, we investigated 3 patients with parathyroid disorders before and after treatment with 1 alpha-hydroxyvitamin D3 (1 alpha-OH-D3). "
2.	Oral Administration 02/01/1987 - "In the present study, we have investigated parathyroid function in terms of enhancement of the plasma levels of 1,25-(OH)2D after oral administration of 100 micrograms of 25-hydroxyvitamin D3 (25OHD3) in 9 cases of primary hyperparathyroidism (1 degree HPT), 7 cases of hypoparathyroidism (HP), 2 cases of pseudohypoparathyroidism (PHP) and 6 normal subjects. " 04/01/1977 - "A 37-year-old woman with typical features of pseudohypoparathyroidism (chronic tetany, paresthesia, persistent hypocalcemia, round face, short stature, short metacarpals and metatarsals, cucutaneous calcification and lack of response to exogenous and endogenous parathyroid hormone as regards urinary phosphate and cyclic AMP excretion) was treated with oral administration of 2 microgram/day of 1alphaOH-vitamin D3. "
3.	Thyroidectomy 04/01/1969 - "Pseudohypoparathyroidism: no improvement following total thyroidectomy." 06/01/2013 - "Twelve patients with primary hypoparathyroidism (n=5), secondary to thyroidectomy (n=4) and pseudohypoparathyroidism (n=3) were studied. " 01/01/2014 - "We herein describe the case of a woman with pseudohypoparathyroidism (PHP) type II. She had a history of subtotal thyroidectomy against Graves' disease without levothyroxine supplementation and presented with stiffness, numbness and muscle cramps. "
4.	Ligation 02/01/2013 - "Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay." 01/01/2013 - "Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification." 01/01/2014 - "A 22-year-old woman with hypocalcemia and clinical features of albright hereditary osteodystrophy diagnosed with sporadic pseudohypoparathyroidism type Ib using a methylation-specific multiplex ligation-dependent probe amplification assay."
5.	Parathyroidectomy 06/01/1998 - "We describe a patient with pseudohypoparathyroidism who was successfully treated with total parathyroidectomy and gland autotransplantation. " 03/20/1984 - "The response to exogenous parathyroid hormone (PTH) with urinary excretion of phosphate and cyclic adenosine monophosphate (cAMP) was tested by the use of synthetic human parathyroid hormone (1-34) [hPTH-(1-34)] on 59 patients with hypocalcemia and normal or high serum inorganic phosphorus and normal renal function without a history of parathyroidectomy for differentiation between idiopathic hypoparathyroidism (IHP), pseudohypoparathyroidism (PHP) and related diseases along with 18 normal subjects. "