Endocrinology and Metabolism

Case Report

A Case of Pseudopseudohypoparathyroidism with Normal Stature.: Sae Rom Kim, Yun Jeong Doh, Hee Kyung Kim, Seong Su Moon, Ju Young Lee, Jae Han Jeon, Soo Won Kim, Bo Wan Kim, In Kyu Lee, Jung Guk Kim; J Korean Endocr Soc. 2009;24(2):138-143. Published online June 1, 2009; DOI: https://doi.org/10.3803/jkes.2009.24.2.138

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Pseudopseudohypoparathyroidism (PPHP) is characterized by the phenotype of Albright hereditary osteodystrophy (AHO) alone without biochemical evidence of multihormone resistance, which is unlike pseudohypoparathyroidism. AHO is associated with characteristic developmental abnormalities that include a short stocky stature, a short neck, brachydactyly, a round face, central obesity, mental retardation and subcutaneous ossifications. AHO is an autosomal dominant disease that's caused by heterozygous inactivating mutations in the Gsalpha gene (GNAS1). Melanocortin-4 receptor (MC4R) is a hypothalamic Gs-coupled receptor that is thought to mediate the central effect of leptin on satiety. MC4R mutations cause morbid obesity starting in infancy, as well as an elevated leptin level. A 62 year old man with a height of 171.5 cm, a round face, a short neck, central obesity and brachydactyly had normal ranges of serum calcium, phosphorus and PTH and a normal Ellsworth-Howard test. GNAS1 gene analysis revealed substitution of alanine to cysteine in the 165 codon of exon 6 and substitution of alanine to cysteine in the 231 codon of exon 9. Two known SNPs (Cyt-1042Thy, Gua-719Ade) in the MC4R were detected in the patient. We report here on a case of PPHP and the patient had normal stature. We propose that MC4R may have contributed to the obesity & normal stature of this patient.

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Polyglandular Autoimmune Syndrome Type III with Primary Hypoparathyroidism
Sang Jin Kim, Sang-Yoon Kim, Han-Byul Kim, Hyukwon Chang, Ho-Chan Cho
Endocrinology and Metabolism.2013; 28(3): 236. CrossRef

Original Article

Mutational Analysis of Gsalpha Protein in Fibrous dysplasia of the Bone.: Sang Youl Rhee, Jeong Taek Woo, Gwanpyo Koh, Seungjoon Oh, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Yong Koo Park; J Korean Endocr Soc. 2005;20(2):142-147. Published online April 1, 2005; DOI: https://doi.org/10.3803/jkes.2005.20.2.142

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Abstract PDF: BACKGROUND
Fibrous dysplasia of the bone(FD) is a benign fibrous bone lesion which usually involves the long bones of the extremities. FD may be asymptomatic, but often leads to bone deformity and pathological fracture. The disease is caused by a somatic mutation in the Gsalpha protein, which is responsible for intracellular signal transduction. METHODS: Mutations in the GNAS1 gene, which codes for Gsalpha protein, was investigated in 34 patients with monostotic and polyostotic FD and McCune-Albright syndrome. DNA was extracted from formalin-fixed, paraffin embedded bone tissues, and exons 8 and 9 of the GNAS1 gene amplified using a polymerase chain reaction(PCR). Subsequently, plasmid cloning and DNA sequencing analysis were performed. RESULTS: The PCR was successfully performed in 5 patients with monostotic FD. However, the sequencing analysis failed to identify any significant point mutations in exons 8 or 9 of GNAS1. Nevertheless, 3 point mutations were observed in the intron of the GNAS1 gene in 2 samples. CONCLUSION: In addition to the previously known somatic mutations of the GNAS1 gene, this study suggests that fibrous dysplasia of the bone might be associated with another point mutations of the GNAS1 gene

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