Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population

Chu, Xueying; Zhu, Yan; Wang, Ou; Nie, Min; Quan, Tingting; Xue, Yunlian; Wang, Wenbo; Jiang, Yan; Li, Mei; Xia, Weibo; Xing, Xiaoping

doi:10.1111/cen.13516

Cited by 18 publications

(30 citation statements)

References 40 publications

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“…Albright’s Hereditary Osteodystrophy and PHP are rare diseases that are well known to endocrinologists. Although clinical findings of the facial region are heterogeneous and never pathognomonic, we felt that “round face” as the only facial sign usually mentioned in available original articles (Mantovani et al, 2010; Mantovani, 2011; Cho et al, 2013; Kottler, 2015; Thiele et al, 2015; Clarke et al, 2016; Thiele et al, 2016; Turan, 2017; Tafaj and Jüppner, 2017; Sano et al, 2018; Chu et al, 2018) was very unspecific. Moreover, since obesity is a part of the AHO phenotype, round face could be the consequence of this extra weight as well.…”

Section: Discussionmentioning

confidence: 96%

“…The two other morphologic clinical findings of the face classically associated with AHO are a low nasal bridge and a short neck (Fitch, 1982; Gorlin et al, 2001). These signs have not been mentioned in available original articles (Mantovani et al, 2010; Mantovani, 2011; Cho et al, 2013; Kottler, 2015; Thiele et al, 2015; Clarke et al, 2016; Thiele et al, 2016; Turan, 2017; Tafaj and Jüppner, 2017; Chu et al, 2018; Sano et al, 2018) and have seldom been mentioned in case reports (Gomes et al, 2002; Stieler et al, 2011). In the present study, only 1 of the 4 patients exhibited a round face, whereas 3 patients presented with a low nasal bridge and a short neck.…”

Section: Discussionmentioning

confidence: 99%

“…Finally, ophthalmologic anomalies were only discussed by Chu et al (2018) in a recent publication. However, several ophthalmologic anomalies have been associated with AHO the most frequent being cataract; 56.2% in Chu et al (2018) and 25% in Gorlin et al (2001), along with strabismus, nystagmus, unequal size of pupils, blurring of disk margins, tortuosity of vessels, diplopia, microphthalmia, early optic atrophy, congenital macular degeneration, bilateral malformation of optic disks, and irregular pigmentation (Fitch, 1982; Gorlin et al, 2001). One patient in the present study suffered from strabismus.…”

Section: Discussionmentioning

confidence: 99%

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Cranio-Maxillofacial and Dental Findings in Albright’s Hereditary Osteodystrophy and Pseudohypoparathyroidism

Schlund

Depeyre

Köhler

et al. 2018

The Cleft Palate-Craniofacial Journal

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Introduction: The clinical phenotype of pseudohypoparathyroidism (PHP) is caused by Albright’s Hereditary Osteodystrophy (AHO). Often, “round face” the only facial clinical sign reported in the literature. The aim of this study was to highlight various cranio-maxillofacial clinical findings associated with AHO. Results: Four patients presented with PHP type 1a. Only one patient exhibited the classical round face. All patients exhibited dental anomalies, class III malocclusion with maxillary retrusion, and a copper beaten appearance of the skull. One suffered from craniosynostosis. Conclusion: The frequency of craniofacial and dental features associated with malocclusion should prompt careful follow-up, particularly during facial growth, in patients with AHO.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Cranio-Maxillofacial and Dental Findings in Albright’s Hereditary Osteodystrophy and Pseudohypoparathyroidism

Schlund

Depeyre

Köhler

et al. 2018

The Cleft Palate-Craniofacial Journal

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“…Tetany and epilepsy was reported to be most common symptoms in PHP patients. The prevalence of epilepsy was 47.1, and 94.6% for intracranial calcification with a positive correlation with seizures in a Chinese cohort of PHP [ 5 ]. This patient showed no sign of cognitive impairment or mental retardation as is common in PHP-1a patients.…”

Section: Discussionmentioning

confidence: 99%

A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report

Dong

Zhang

et al. 2021

BMC Endocr Disord

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Background Pseudohypoparathyroidism is a rare genetic disease characterized by hypocalcaemia and hyperphosphataemia due to the defect to the guanine nucleotide-binding protein alpha subunit (GNAS) gene. Patients with pseudoparathyroidism type 1a and 1c could manifest Albright’s hereditary osteodystrophy and multiple hormone resistance including gonadotropin and thyroid stimulating hormone. Case presentation Here we report a Chinese man who presented with fatigue, recurrent seizure and Albright’s hereditary osteodystrophy. His genetic study revealed a heterozygote mutation in the GNAS gene [NM_000516.4(GNAS): c2787_2788del (p.Val930AspfsTer12)]. After calcium and calcitriol supplement, his seizures achieved partially remission. Conclusions We report a case of PHP1a or 1c with a novel frameshift mutation in GNAS gene in a patient presenting with AHO, as well as TSH and partial gonadotropin resistance. This mutation in this case has not been reported in literature and adds to the spectrum of genetic mutations related to PHP.

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“…Type 1c, being phenotypically similar to type 1a, differs in the coupling of adenyl cyclase to PTH and its receptor. 2,3…”

Section: Introductionmentioning

confidence: 99%

Acrophobia In A Young Girl With Parathyroid Hormone Resistance (pseudohypoparathyroidism)

Gilani

Memon

Asif

et al. 2018

J Coll Physicians Surg Pak

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Pseudohypoparathyroidism (PHP) is an extremely rare group of disorders. It is a spectrum of disorders caused by end organ resistance to parathyroid hormone (PTH) and is represented by impaired signalling that activates cAMP dependent pathways via alpha subunit of G-protein (GS). It is characterised by hypocalcemia, hyperphosphatemia, raised PTH levels due to insensitivity to biological activity of PTH, and normal renal function tests. We describe a case of 10-year girl who presented with fear of falling down from heights. Her laboratory evaluation and skeletal survey showed evidence of PHP along with features of Albright's hereditary osteodystrophy (AHO) pointing towards the diagnosis of PHP type 1a.

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Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population

Abstract: This study is the largest single-centre series of PHP patients and summarizes the clinical and genetic features of the Chinese PHP population. While there was substantial clinical overlap between PHP1A/C and PHP1B, differences in disease progression were observed.

Cited by 18 publications

References 40 publications

Cranio-Maxillofacial and Dental Findings in Albright’s Hereditary Osteodystrophy and Pseudohypoparathyroidism

Cranio-Maxillofacial and Dental Findings in Albright’s Hereditary Osteodystrophy and Pseudohypoparathyroidism

A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report

Acrophobia In A Young Girl With Parathyroid Hormone Resistance (pseudohypoparathyroidism)

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