pseudopseudohypoparathyroidism/nutukimas

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Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.

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BACKGROUND Obesity is a prominent feature of Albright hereditary osteodystrophy (AHO), a disorder caused by heterozygous GNAS mutations that disrupt the stimulatory G protein alpha-subunit Galpha(s). Because Galpha(s) is paternally imprinted in certain hormone target tissues, maternal inheritance of

Pseudo-pseudohypoparathyroidism: report of a case with associated cardiopulmonary syndrome of obesity.

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Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

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BACKGROUND Pseudohypoparathyroidism type Ia and pseudopseudohypoparathyroidism are characterized by Albright's hereditary osteodystrophy (AHO), respectively, with and without hormone resistance. Both clinical conditions result from decreased expression or function of the alpha-subunit of the

Early manifestation of obesity and calcinosis cutis in infantile pseudohypoparathyroidism.

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Pseudohypoparathyroidism is a parathyroid hormone resistance condition, characterised by biochemical findings of hypocalcaemia or normocalcaemia with inappropriately elevated parathyroid hormone level and usually with a typical osteodystrophy feature. We report an infant with

[Pseudopseudohypoparathyroidism and genomic imprinting].

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Pseudopseudohypoparathyroidism (PPHP) is caused by the paternally-derived mutation in the coding region of GNAS gene. The phenotype of PPHP is produced by the sum of both decreased Gsalpha protein in biallelically expressed tissues and other proteins or non-coding RNAs by mutated paternal-allele

Bariatric surgery in an obese patient with Albright hereditary osteodystrophy: a case report.

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BACKGROUND 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. METHODS A 26-year-old obese Caucasian woman with Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism

Definable somatic disorders in overweight children and adolescents.

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OBJECTIVE To analyze the frequencies and clinical presentation of definable somatic disorders in children who are overweight. METHODS We assessed prospectively 1405 children aged 4 to 16 years who were overweight and came to our specialized clinic for endocrinology and obesity with a standardized

Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism.

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Albright hereditary osteodystrophy (AHO) is a syndrome caused by inactivating mutations in the GNAS (guanine nucleotide-binding protein, alpha-stimulating) gene. Patients with AHO have short stature, obesity, brachydactyly and subcutaneous calcifications. AHO can be associated with

Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism.

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Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.

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BACKGROUND Loss-of-function GNAS mutations lead to hormone resistance and Albright's hereditary osteodystrophy (AHO) when maternally inherited, i.e. pseudohypoparathyroidism-Ia (PHPIa), but cause AHO alone when located on the paternal allele, i.e. pseudoPHP (PPHP). OBJECTIVE We aimed to establish

Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism.

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Patients with Albright hereditary osteodystrophy (AHO) phenotype are usually seen in pediatric endocrinology policlinics when they are evaluated for short stature and/or obesity. Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of

Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.

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OBJECTIVE Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead

Polyglandular Autoimmune Syndrome Type III with Primary Hypoparathyroidism.

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Polyglandular autoimmune syndrome is defined as multiple endocrine gland insufficiencies accompanied by autoimmune diseases of the endocrine and nonendocrine system. After Schmidt introduced a case of nontuberculosis adrenal gland dysfunction with thyroiditis in 1926, Neufeld defined polyglandular

Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene.

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Albright's hereditary osteodystrophy (AHO) is a characteristic skeletal phenotype, including short stature, obesity, round face, and brachydactyly. AHO appears in patients with pseudohypoparathyroidism (PHP) who have resistance to PTH and in their eumetabolic family members who have

A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy.

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OBJECTIVE To identify the molecular defect by which psychomotor retardation is caused in two brothers with congenital hypothyroidism who received adequate treatment with l-thyroxine. METHODS A six-year-old boy presented with psychomotor retardation and congenital primary hypothyroidism (CH). The

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