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Endocrinol Metab : Endocrinology and Metabolism


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Sae Rom Kim  (Kim SR) 2 Articles
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
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AbstractAbstract PDF
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.


Citations to this article as recorded by  
  • 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
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Free T4 is Negatively Correlated with Non-alcoholic Fatty Liver Disease in Euthyroid Women.
Eon Ju Jun, Hyun Sook Kim, Hyue Kyung Chung, Ji Hyun Lee, Sae Rom Kim, Eui Dal Jung
J Korean Endocr Soc. 2009;24(2):87-92.   Published online June 1, 2009
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AbstractAbstract PDF
Thyroid hormones play an important role in the regulation of lipid and carbohydrate metabolism and the body mass index (BMI), which all affect non-alcoholic fatty liver disease (NAFLD). In a previous study, we demonstrated that free T4 was negatively associated with the BMI in euthyroid women. However, there is still uncertain as to whether the thyroid function within the normal range is associated with NAFLD and liver function abnormalities. We sought to evaluate the thyroid function (free T4, TSH) and its possible relationship with NAFLD in euthyroid women. METHODS: A total of 835 euthyroid, non heavy alcoholics women who visited the Daegu Catholic University University Medical Centre for primary health screening from January 1, 2006 to December 31, 2006 participated in this cross-sectional study. The women who were not euthyroid or heavy alcoholics (> 70 g/week in women according to the DSM-IV), there was no known history of diabetes mellitus, the fasting blood glucose was more than 5.55 mmol/L and those who had viral hepatitis were excluded. Hepatic ultrasonography scanning was performed in all the participants by a single experienced radiologist. The TSH, free T4, BP, fasting glucose, serum liver enzymes (AST, ALT, GGT, T-bilirubin), lipid profiles [total-cholesterol, triglyceride (TG), HDL-C, LDL-C] and NAFLD were evaluated. RESULTS: Euthyroid women with NAFLD had lower free T4 levels than did the euthyroid women without NAFLD. After adjustment for age and BMI, free T4 was negatively correlated with TG, but free T4 was positively correlated with the total serum bilirubin. Free T4 was not correlated with the serum AST, ALT and GGT. After adjustment for age, the BMI, the fasting glucose, the GGT and free T4, but not TSH, were significantly negatively correlated with NAFLD. CONCLUSION: We demonstrated a negative correlation between free T4 and NAFLD in euthyroid women. This finding suggests lower levels of free T4 is associated with NAFLD in euthyroid subjects.
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