• Clinical and Experimental Pediatrics
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• 제46권10호
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• pp.1032-1035
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• 2003

저자들은 미숙아에서 이학적 검사상 AHO를 동반하지 않고, 생화학 검사에서는 저칼슘혈증, 고인산혈증, 혈청 PTH의 증가와 24시간 소변의 기저 cAMP의 증가를 보이면서, 대퇴골의 자발골절을 동반했던 가성부갑성선 기능저하증 1례를 문헌 고찰과 함께 보고하는 바이다.

• Archives of Plastic Surgery
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• 제37권3호
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• pp.281-284
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• 2010

Purpose: Pseudohypoparathyroidism is a hereditary disorder characterized by symptoms and signs of hypoparathyroidism, typically in association with distinctive skeletal and developmental defects. Hypoparathyroidism is caused by a insufficient end-organ response to PTH (parathyroid hormone). Hypoparathyroidism consists of four types in which the most common form, pseudohypoparathyroidism-Ia, accompany with Albright's hereditary osteodystrophy. We experienced a case of a woman who had been suffering from calcified mass on left foot, diagnosed Albright's hereditary osteodystrophy. Methods: We present a case of a 24-year-old Korean female who visited plastic surgery department with a painful mass on dorsum of the left foot. On the physical exam, bony hard and painful mass, fixed to dermis, was noted. Plain X-ray films demonstrate suspicious calcification on subcutaneous tissue of dorsum of the left foot. The patient was diagnosed pseudohypoparathyroidism 2 years ago at the plastic surgery department. At the visiting time, the laboratory results were within normal range even though the patient actually had a disease. The reason is because the patient has been treated with Vit.D, calcium replacement therapy and thyroid hormone therapy. Moreover, the patient has been treated with anticonvulsant agents due to epilepsy. On the brain computer tomography (CT), calcification was noted on the basal ganglia and dentate nucleus. So we decided the total excision of entire mass from the left foot. Results: We excised main mass with numerous pinhead sized masses which were scattered around the main mass. The $6.0{\times}4.0{\times}0.5\;cm$ sized main mass was bony hard, and its surface was flat and margin was irregular. The permanent biopsy was confirmed that the main mass and all the scattered tiny masses were heterotopic calcification. The patient did not suffer from the pain after the mass excision. The wound has been healed without any problem. Conclusions: Heterotrophic calcification is often accompanied with pseudohypoparathyroidism, but such a huge one is uncommon. We report a case of pseudohypoparathyroidism with heterotrophic calcification developed in dorsum of left foot who was diagnosed by excisional biopsy.

• Clinical and Experimental Pediatrics
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• 제57권5호
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• pp.240-244
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• 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 and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 ($p.Gln213^*$). To our knowledge, this is a novel mutation in GNAS.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.18-22
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• 2017

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.

• 대한유전성대사질환학회지
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• 제21권1호
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• pp.7-14
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• 2021

목적: 가성부갑상선기능항진증은 GNAS 부위의 돌연변이에 의해 발생하며, 여러 호르몬에 대한 저항성과 올브라이트 유전성 골이영양증을 특징으로 한다. 이 연구는 가성부갑상선기능항진증의 표현형 특성과 분자유전학적 특징을 조사하고자 하였다. 방법: 부산대학교 어린이병원에 등록된 가성부갑상선기능항진증으로 진단된 환자 8명의 임상적 특징과, 생화학적, 유전학적 검사 결과들을 포함한 의무기록을 후향적으로 조사하였다. 결과: 총 8명의 환자 중 5명은 PHP1a로 진단되었고 3명은 PHP-1b로 진단되었다. PHP1a 환자는 GNAS 유전자의 3가지 서로 다른 돌연변이를 가졌고, PHPIb 환자는 DMR (differential methylated region) 각인 GNAS의 소실을 보였다. 두 개의 새로운 GNAS 변이(c.313-2A>T, c.1094G>A)가 PHP1a 환자에서 발견이 되었다. 모든 PHP1a 환자는 저신장(80%), 단지증(80%), 둥근 얼굴(80%), 비만(40%), 이소성 골화(60%), 지적 장애(60%) 등의 올브라이트 유전성 골이영양증의 특징을 보였으며, PHP1b 환자의 경우는 한 명(33.3%)만이 둥근 얼굴과 같은 올브라이트 유전성 골이영양증의 특징을 보였다. PHP1a 환자와 PHP1b 환자의 표현형 특징을 비교하였을 때, 현재 키 SDS만이 PHP1b 환자에서 PHP1a 환자보다 각각 더 높은 경향성을 보였다(P=0.06). 결론: 본 연구는 한국인 PHP 환자들의 임상적 표현형 및 유전학적 특징을 요약하였다. PHP1a와 PHP1 환자들 간에 상당한 임상적 중복이 있었지만, 다른 장기 말단 저항의 영향뿐만 아니라 PHP로 진단받은 소아의 성장과 발달을 평가하기 위해서는 더 장기적인 추적 연구가 필요하겠다.