• 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.

• Laboratory Medicine Online
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• 제7권2호
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• pp.83-87
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• 2017

Pseudohypoparathyroidism (PHP) is a rare disorder caused by genetic and epigenetic aberrations in the GNAS complex locus resulting in impaired expression of stimulatory G protein ($Gs{\alpha}$). PHP type Ib (PHP-Ib) is characterized by hypocalcemia and hyperphosphatemia due to renal resistance to the parathyroid hormone, and is distinguished from PHP-Ia by the absence of osteodystrophic features. An 11-yr-old boy presented with poor oral intake and cramping lower limb pain after physical activity. Laboratory studies revealed hypocalcemia, hyperphosphatemia, and increased parathyroid hormone levels. The GNAS complex locus was evaluated using the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay. Gain of methylation in the NESP55 domain and loss of methylation in the antisense (AS) transcript, XL, and A/B domains in the maternal allele were observed. Consequently, we present a case of PHP-Ib diagnosed using MS-MLPA.

• Asian Spine Journal
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• 제12권6호
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• pp.1028-1036
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• 2018

Study Design: Single-center, observational, case-control study. Purpose: Comparison and analysis of the metabolic and coagulative profiles in patients with idiopathic scoliosis, patients with congenital scoliosis, and healthy controls. Overview of Literature: Serum melatonin deficiency has been a controversial topic in the etiopathogenesis of scoliosis. Low bone mineral density, low vitamin D3 levels, and high parathyroid hormone levels are common metabolic abnormalities associated with scoliosis that may be responsible for its pathogenesis. In addition to metabolic defects, several studies have shown coagulation defects that either persist from the preoperative period or occur during surgery and usually lead to more than the expected amount of blood loss in patients undergoing deformity correction for scoliosis. Methods: The study population (n=73) was classified into those having congenital scoliosis (n=31), those with idiopathic scoliosis (n=30), and healthy controls (n=12). After detailed clinicoradiological evaluation of all the subjects, 10-mL blood samples were collected, measured, and analyzed for various metabolic and coagulation parameters. Results: The mean serum melatonin levels in patients with idiopathic scoliosis were significantly lower than those in the healthy controls. Although the mean serum melatonin level in the congenital group was also low, the difference was not statistically significant. Serum alkaline phosphatase and parathyroid hormone levels were higher in the scoliosis groups, whereas the vitamin D level was lower. No differences were observed in the coagulation profiles of the different groups. Conclusions: Low serum melatonin levels associated with scoliosis can be a cause or an effect of scoliosis. Moreover, low bone mineral density, high bone turn over, and negative calcium balance appear to play an important role in the progression, if not the onset, of the deformity.

• Endocrinology and Metabolism
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• 제33권4호
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• pp.485-492
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• 2018

Background: Increasing evidence supports interplay between aldosterone and parathyroid hormone (PTH), which may aggravate cardiovascular complications in various heart diseases. Negative structural cardiovascular remodeling by primary aldosteronism (PA) is also suspected to be associated with changes in calcium levels. However, to date, few clinical studies have examined how changes in calcium and PTH levels influence cardiovascular outcomes in PA patients. Therefore, we investigated the impact of altered calcium homeostasis caused by excessive aldosterone on cardiovascular parameters in patients with PA. Methods: Forty-two patients (mean age $48.8{\pm}10.9$ years; 1:1, male:female) whose plasma aldosterone concentration/plasma renin activity ratio was more than 30 were selected among those who had visited Severance Hospital from 2010 to 2014. All patients underwent adrenal venous sampling with complete access to both adrenal veins. Results: The prevalence of unilateral adrenal adenoma (54.8%) was similar to that of bilateral adrenal hyperplasia. Mean serum corrected calcium level was $8.9{\pm}0.3mg/dL$ (range, 8.3 to 9.9). The corrected calcium level had a negative linear correlation with left ventricular end-diastolic diameter (LVEDD, ${\rho}=-0.424$, P=0.031). Moreover, multivariable regression analysis showed that the corrected calcium level was marginally associated with the LVEDD and corrected QT (QTc) interval (${\beta}=-0.366$, P=0.068 and ${\beta}=-0.252$, P=0.070, respectively). Conclusion: Aldosterone-mediated hypercalciuria and subsequent hypocalcemia may be partly involved in the development of cardiac remodeling as well as a prolonged QTc interval, in subjects with PA, thereby triggering deleterious effects on target organs additively.

• 대한본초학회지
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• 제24권4호
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• pp.149-157
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• 2009

Objectives : This study was designed to investigate the effects of Cheunggyeongsamul-tang extract on the growth of longitudinal bone in adolescent female rats. Methods : Longitudinal bone growth was measured by fluorescent microscopy. To examine the effects on the growth plate metabolism, the total height of growth plate, the induction of local insulin-like growth factor-1 (IGF-1), IGF-1 receptor, bone morphogenetic protein-2 (BMP-2), BMPR-1A, indian hedgehog (IHH), and parathyroid hormone-related protein (PTH-rP) were measured. Results : Cheunggyeongsamul-tang extract enhanced longitudinal bone growth and total height of the growth plate. Also, it promoted the induction of local IGF-1, BMP-2, IHH and PTH-rP of the growth plate. Conclusions : This study shows that the Cheunggyeongsamul-tang extract effects longitudinal bone growth in adolescent rats and might be used for both stunted adolescents and inherent growth failure patients.

• 한국식품영양과학회지
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• 제25권6호
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• pp.993-1005
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• 1996

본 연구는 폐경 후 여성에게 식이 칼슘염 형태, 에스트로겐 및 에스트로겐/칼슘 혼합요법이 골대사의 생화학적 변화에 미치는 영향을 알아보고자 난소절제쥐를 이용한 총 9군으로 분류하여 6주간 사육한 후 그 효과를 살펴보았다. 식이 섭취량, 식이 효율 및 체중 증가량은 난소절제로 현저히 증가하였으나 난소절제 후 estrogen 투여군 모두에서 식이 섭취량이 크게 감소되었다. 골흡수의 지표로 사용되는 소변으로 배설되는 hydroxyproline 함량은 난소절제로 현저히 증가하였으나, 난소절제 후 estrogen 투여군 모두에서 감소하였는데, 특히 estrogen/칼슘 혼합 투여군에서 가장 많은 감소를 나타내었다. 혈장 부갑상선 호르몬 함량은난소절제로 다소 증가하나, 난소절제 후 estrogen 및 estrogen/칼슘 혼합군에서 혈장 중 부갑상선 호르몬 수준이 32%나 감소되었다. 그러나 estrogen 점진적 감소군에서는 현저한 감소를 나타내지 않았다. 골생성 및 조골세포형성의 지표인 osteocalcin 함량과 AP 활성은 난소절제로 현저히 증가하였으나, 난소절제 후 estrogen 투여군 모두에서 감소하였다. 이상의 성적으로 보아 estrogen 및 estrogen/칼슘 혼흔합요법은 골교체율을 감소시켜 골손실을 방지하는데 효과적인 방안임을 확인할 수 있었으며, 한편 estrogen 점진적 감소요법은 골손실 감소에 크게 기여하지 못하나, estrogen점진적 감소와 고칼슘 투여군, estrogen 점진적 감소와 칼슘 점진적 증가군에서는 골손실을 상당량 방지할 수 있음을 알 수 있었다. 칼슘염 종류에 따른 골손실에 미치는 생화학적 요인들의 변화는 크게 나타나지 않았다.

• 한국응용과학기술학회지
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• 제35권2호
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• pp.519-531
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• 2018

본 연구는 여성노인을 대상으로 라인댄스와 저항성운동을 적용한 복합운동프로그램이 신체수행능력, 골밀도 및 부갑상선호르몬에 미치는 영향을 구명하기 위하여, 만65세~75세 여성노인을 대상으로 운동군 11명, 대조군 11명으로 분류하여 회당 60분씩 주 2회 라인댄스, 1회 저항성운동을 12주간 실시하였다. 운동 수행강도는 운동자각도(RPE)를 이용하여 '가볍다'에서 '약간 힘들다' 정도인 11~14 사이를 유지하였다. 라인댄스와 저항성운동 전 후에 측정한 자료의 그룹 내 차이 비교를 위해 대응표본 T검정, 그룹 간 차이는 운동 전 후의 변화량을 산출하여 독립표본 T검정을 실시하였고, 측정변인들에 대한 그룹 및 시기간 상호작용을 검증하기 위해 이원배치 반복측정 분산분석으로 하였으며, 각 항목별 통계적 유의수준은 .05로 설정하였다. 그 결과, 운동군이 신체수행능력 중 균형(p<.05), 보행속도(p<.01), 의자에서 일어서기(p<.001), SPPB 종합점수(p<.001)가 증가하였으며, 골밀도는 요추(L2~L4)골밀도에서 운동군이 유의하게 증가하였고(p<.05), T-score점수는 운동군이 유의한 증가를 보였으나(p<.01), 대조군은 유의한 차이가 나타나지 않았다. PTH수준은 운동군이 유의하게 감소하였고(p<.05), 대조군은 유의한 차이가 나타나지 않았다. 이상의 결과 규칙적이고 지속적인 신체활동은 여성노인의 신체수행능력, 골밀도 및 부갑상선 호르몬의 변화에 긍정적인 영향을 미친 것으로 사료된다.

• Clinical and Experimental Pediatrics
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• 제58권4호
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• pp.148-153
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• 2015

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kidney. This study presents a patient who had autosomal dominant hypocalcemia with Bartter syndrome due to an activating mutation Y829C in the transmembrane domain of the CaSR. Symptoms of hypocalcemia occurred 12 days after birth and medication was started immediately. Medullary nephrocalcinosis and basal ganglia calcification were found at 7 years old and at 17 years old. Three hypercalcemic episodes occurred, one at 14 years old and two at 17 years old. The Bartter syndrome was not severe while the serum calcium concentration was controlled, but during hypercalcemic periods, the symptoms of Bartter syndrome were aggravated.

• 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.

• 대한치과교정학회지
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• 제30권6호
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• pp.669-675
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• 2000

부갑상선 호르몬이 과도하게 분비되는 경우 전반적인 골의 탈석회화에 의해 골막성 골흡수 및 골의 동통 등의 증상이 발현될 수 있다. 본고에서 소개된 환자의 경우 광범위한 치근 흡수를 동반한 부정 교합 환자로, 임상 및 두부 방사선 계측사진 분석에서 상악 열성장과 하악 과성장이 동반된 골격성 III급 부정 교합으로 진단되 었으며, 병리검사결과 부갑상선 호르몬 및 성장 호르몬의 수치가 증가된 것으로 보아 부갑상선 기능항진증으로 판단되었다. 방사선 사진 분석 결과 광범위한 치근의 흡수를 관찰할 수 있었으며 골다공증과 유사하게 골소주 형태가 매우 성기면서 ground glass 양상을 보였다. 이와 같이 부갑상선 기능항진증에 의해 골질뿐만 아니라 치근이 영향을 받은 것은 매우 드문 경우로 생각된다. 또한 부갑상선 기능항진증에 의해 내장두개의 골침착이 감소될 수 있다는 동물실험 결과를 볼 때 III급 부정교합의 원인이 상악 열성장인 점과 연관하여 매우 흥미로운 점으로 지적된다. 따라서 부갑상선 기능항진증의 다양한 증상 및 양태에 대한 조기진단 및 이에 대한 지식은 교정진단 및 치료에 중요한 역할을 할 수 있다고 생각된다.