A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report

Zhang,Jie; Guan,Ming; Zhao,Shiyong; Wu,Suling; Weng,Lingwei; Sheng,Wenbin

doi:10.3892/etm.2022.11534

September-2022 Volume 24 Issue 3

Full Size Image

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

An International Open Access Journal Devoted to General Medicine.

September-2022 Volume 24 Issue 3

Full Size Image

Case Report Open Access

A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report

Authors:
- Jie Zhang
- Ming Guan
- Shiyong Zhao
- Suling Wu
- Lingwei Weng
- Wenbin Sheng
View Affiliations / Copyright

Affiliations: Department of Pediatrics, Hangzhou Children's Hospital, Hangzhou, Zhejiang 310014, P.R. China, Department of Otolaryngology, Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, P.R. China

Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
Article Number: 597
|
Published online on: July 28, 2022

https://doi.org/10.3892/etm.2022.11534
Expand metrics +

Abstract

Pseudohypoparathyroidism type 1A (PHP1A), a rare hereditary disorder, is featured by end‑organ resistance to parathyroid hormone and Albright's hereditary osteodystrophy. Heterozygous mutation of guanine nucleotide‑binding protein α stimulating (GNAS) gene causes the half decreased bioactivity of the Gsα protein levels. Due to the diverse early clinical manifestations of PHP1A, a diagnosis of PHP1A is often easily overlooked and misdiagnosis or missed diagnosis is common. The present study described a girl who was initially diagnosed with hereditary multiple exostoses, but was afterwards confirmed with PHP1A. Moreover, genetic analysis indicated a new mutation (c2277deIC) of the gene.

View Figures

View References

1	Germain-Lee EL: Management of pseudohypoparathyroidism. Curr Opin Pediatr. 31:537–549. 2019.PubMed/NCBI View Article : Google Scholar
2	Linglart A, Levine MA and Jüppner H: Pseudohypoparathyroidism. Endocrinol Metab Clin North Am. 47:865–888. 2018.PubMed/NCBI View Article : Google Scholar
3	Mantovani G: Clinical review: Pseudohypoparathyroidism: Diagnosis and treatment. J Clin Endocrinol Metab. 96:3020–3030. 2011.PubMed/NCBI View Article : Google Scholar
4	Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, et al: Diagnosis and management of pseudohypoparathyroidism and related disorders: First international consensus statement. Nat Rev Endocrinol. 14:476–500. 2018.PubMed/NCBI View Article : Google Scholar
5	Hanna P, Grybek V, Perez de Nanclares G, Tran LC, de Sanctis L, Elli F, Errea J, Francou B, Kamenicky P, Linglart L, et al: Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity. J Bone Miner Res. 33:1480–1488. 2018.PubMed/NCBI View Article : Google Scholar
6	Savaş Erdeve Ş, Berberoğlu M, Şıklar Z, Evliyaoğlu O, Hiort O and Öcal G: Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5. J Clin Res Pediatr Endocrinol. 2:85–88. 2010.PubMed/NCBI View Article : Google Scholar
7	Mantovani G and Spada A: Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. J Pediatr Endocrinol Metab. 19 (Suppl 2):S663–S670. 2006.PubMed/NCBI View Article : Google Scholar
8	Riepe FG, Ahrens W, Krone N, Fölster-Holst R, Brasch J, Sippell WG, Hiort O and Partsch CJ: Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. Eur J Endocrinol. 152:515–519. 2005.PubMed/NCBI View Article : Google Scholar
9	Snanoudj S, Molin A, Colson C, Coudray N, Paulien S, Mittre H, Gérard M, Schaefer E, Goldenberg A, Bacchetta J, et al: Maternal transmission ratio distortion of GNAS loss-of-function mutations. J Bone Miner Res. 35:913–919. 2020.PubMed/NCBI View Article : Google Scholar
10	Kodo K, Maeda H, Morimoto H, Wada M, Imura T and Nakajima H: A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: Early diagnosis of osteoma cutis by skin biopsy. Clin Pediatr Endocrinol. 28:15–18. 2019.PubMed/NCBI View Article : Google Scholar
11	Mantovani G and Elli FM: Inactivating PTH/PTHrP signaling disorders. Front Horm Res. 51:147–159. 2019.PubMed/NCBI View Article : Google Scholar
12	Del Monte P, Cuttica CM, Marugo A, Foppiani L, Audenino D, Godowicz TT, Elli FM, Mantovani G and Di Maria E: Unrecognized pseudohypoparathyroidism type 1A as a cause of hypocalcemia and seizures in a 64-year-old woman. Case Rep Endocrinol. 2019(8456239)2019.PubMed/NCBI View Article : Google Scholar

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report

This article is mentioned in:

Abstract

Figure 1

Figure 2

Figure 3

Related Articles