ArticleJournal of the Endocrine Society2018
(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.
Article in Journal of the Endocrine Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Severe infantile obesity with a maternalClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Pseudohypoparathyroidism with normocalcemia: a rare case report from Nepal.Annals of medicine and surgery (2012) · 2025Article
- A novelClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- A Case of Pseudohypoparathyroidism Misdiagnosed as Idiopathic Epilepsy for 5 Years: Clinical Analysis and Follow-up Outcomes.The Journal of international medical research · 2023Article
- Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a NovelJournal of clinical research in pediatric endocrinology · 2022Article
- Clinical and genetic characteristics for 4 patients with Type Ib pseudohypoparathyroidism.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.Endocrine connections · 2022Article
- Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant.Children (Basel, Switzerland) · 2022Article
- Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.BMC endocrine disorders · 2022Article
- [An analysis of GNAS and THRA gene mutations in children with congenital hypothyroidism].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextPseudohypoparathyroidism type I (PHP-I) is divided into PHP-Ia with Albright hereditary osteodystrophy and PHP-Ib, which usually shows no Albright hereditary osteodystrophy features. Although PHP-Ia and PHP-Ib are typically caused by genetic defects involving
objectiveTo clarify phenotypic characteristics according to underlying (epi)genetic causes. PATIENTS AND
methodsWe performed (epi)genotype-phenotype analysis in 69 Japanese patients with PHP-I; that is, 28 patients with genetic defects involving Gs
resultsAlthough (epi)genotype-phenotype findings were grossly similar to those reported previously, several important findings were identified, including younger age at hypocalcemic symptoms and higher frequencies of hyperphosphatemia in subgroup C than in subgroup D, development of brachydactyly in four patients of subgroup C, predominant manifestation of subcutaneous ossification in subgroup B, higher frequency of thyrotropin resistance in group 1 than in group 2, and relatively low thyrotropin values in four patients with low T4 values and relatively low luteinizing hormone/follicle-stimulating hormone values in five adult females with ovarian dysfunction.
conclusionThe results imply the presence of clinical findings characteristic of each underlying cause and provide useful information on the imprinting status of Gs
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