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Case Report
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee
Clin Exp Pediatr. 2014;57(5):240-244.   Published online May 31, 2014

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly...

A Case of Pseudohypoparathyroidism in a Premature Infant
Jong Il Yang, Jang Won Seo, Ji Young Kim
Clin Exp Pediatr. 2003;46(10):1032-1035.   Published online October 15, 2003
In pseudohypoparathyroidism as reported by Albright in 1942, the parathyroid gland can normally synthesize and secrete parathyroid hormone(PTH). Pseudohypoparathyroidism has a similar biochemical finding with hypoparathyroidisms like hypocalcemia and hyperphosphatemia due to target tissue resistance to PTH. Administered PTH does not raise the serum levels of calcium and urinary phosphate. PTH activates G-protein in peripheral tissue and adenylate cyclase through...
A Case of Pseudohypoparathyroidism TypeⅡ 1
Eun Young Kim, Dae Kjun Kim, Hong Jun Lee, Eun Kyung Jung, Young Bong Park
Clin Exp Pediatr. 1996;39(9):1326-1330.   Published online September 15, 1996
Pseudohypoparathyroidism is characterized by target cell resistance to the effects of parathyroid hormone and classified into various types depending on the phenotypic and biochemical findings. Pseudohypoparathyroidism type II differs from type I in that the urinary excretion of cAMP is elevated both in the basal state and after stimulation with PTH. We experienced a case of pseudohypoparathyroidism type II in 12year old man who...
Pseudohypoparathyroidism and Peudopseudohypoparathyroidism in a Family.
Young Cherl Lee, Duk Hee Kim, Chang Jun Coe
Clin Exp Pediatr. 1984;27(11):1128-1134.   Published online November 30, 1984
We are reporting the cases of 2 patients in a family, younger sister and elder brother, who exhibit skeletal and physiognomonic characteristic pictures of PHP and PPHP. In this report, we illustriated pertinent clinical and pathologic features of this diseases in children and revi- ewed the literature concerning this diseases.
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