Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism
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DOI: 10.1002/mgg3.2144
Abstract: Pseudohypoparathyroidism (PHP) is a series of diseases related to pathological changes and neurocognitive and endocrine abnormalities, mainly due to the GNAS mutation on chromosome 20q13.2, which weakens receptor‐mediated hormone signal transduction. Considering its complex genetic… read more here.
Keywords: whole genome; genome sequencing; deletion mutation; mutation ... See more keywords
Health‐related quality of life in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism
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DOI: 10.1111/cen.13593
Abstract: Nonsurgical hypoparathyroidism (NS‐HypoPT) and pseudohypoparathyroidism (PHP) are rare diseases, with a prevalence of 2/100.000 and 1/100.000, respectively. Only few studies on Quality of Life (QoL) among patients with Ns‐HypoPT and PHP are available. We aimed… read more here.
Keywords: health related; quality life; pseudohypoparathyroidism; nonsurgical hypoparathyroidism ... See more keywords
The Endocrine Chameleon: Expanding the phenotype of Pseudohypoparathyroidism 1A in infancy.
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DOI: 10.1159/000543167
Abstract: INTRODUCTION Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating PTH/PTHrP signaling disorders (iPPSD). The associated phenotype develops over time and often includes hormonal resistances, short stature and osteoma cutis. More complex and very early… read more here.
Keywords: endocrine chameleon; chameleon expanding; phenotype pseudohypoparathyroidism; pseudohypoparathyroidism ... See more keywords
Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "BMC Endocrine Disorders"
DOI: 10.1186/s12902-022-01011-9
Abstract: Background Pseudohypoparathyroidism (PHP) encompasses a highly heterogenous group of disorders, characterized by parathyroid hormone (PTH) resistance caused by mutations in the GNAS gene or other upstream targets. Here, we investigate the characteristics of a female… read more here.
Keywords: clinical genetic; complicated hypokalemia; case; mutations gnas ... See more keywords
Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2020-0419
Abstract: Abstract We present an unusual case of SHOX deficiency associated with Léri-Weill dyschondrosteosis (LWD), Hashimoto’s thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders… read more here.
Keywords: shox deficiency; case; dyschondrosteosis; thyroiditis ... See more keywords
STX16 exon 5–7 deletion in a patient with pseudohypoparathyroidism type 1B
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DOI: 10.1515/jpem-2023-0562
Abstract: Abstract Objectives Pseudohypoparathyroidism (PHP) comprises a cluster of heterogeneous diseases characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone (PTH) resistance. PHP type 1B (PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16.… read more here.
Keywords: methylation; exon deletion; type; pseudohypoparathyroidism ... See more keywords
Prevalence of pseudohypoparathyroidism and nonsurgical hypoparathyroidism in Japan in 2017: A nationwide survey.
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DOI: 10.2188/jea.je20220152
Abstract: BACKGROUND Pseudohypoparathyroidism (PHP) and nonsurgical hypoparathyroidism (NS-HypoPT) are rare diseases with hypocalcemia, hyperphosphatemia, and high and low parathyroid hormone levels, respectively. In Japan, over 20 years have passed since the last survey on these diseases.… read more here.
Keywords: japan 2017; nonsurgical hypoparathyroidism; prevalence; survey ... See more keywords