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A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene

Kim YM, Jang YY, Jeong JE, Park HJ, Jang JH, Kim JK

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. Pathogenic variants in the CYP27B1 gene lead to loss of 1α-hydroxylase activity. We report...
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Thyrotoxic hypokalemic periodic paralysis due to Graves' disease in 2 adolescents

Roh JG, Park KJ, Lee HS, Hwang JS

Thyrotoxic periodic paralysis (TPP) is a notable and potentially lethal complication of thyrotoxicosis, and Graves' disease is the most common cause of TPP. TPP is commonly reported in Asian males...
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Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?

De Rose DU, Perri A, Gallini F, Priolo F, Tiberi E, Vento G, Zecca E

We report a case of transient pseudohypoparathyroidism in a full-term newborn that presented at 20 hours of life with hypocalcemic seizures, hyperphosphatemia and raised parathormone levels. The diagnosis of pseudohypoparathyroidism...
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Thyroid function in girls with central precocious puberty

Jung G, Oh SB, Lee WY, Kim HR, Nam HK, Kim JH, Rhie YJ, Lee KH

PURPOSE: Obesity is a well-known risk factor for central precocious puberty (CPP). Recently, elevated thyroid stimulating hormone (TSH) was reported in obese youth. However, few data regarding the relationship between...
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Comparing adult height gain and menarcheal age between girls with central precocious puberty treated with gonadotropin-releasing hormone agonist alone and those treated with combined growth hormone therapy

Kim MS, Koh HJ, Lee GY, Kang DH, Kim SY

PURPOSE: This study aimed to investigate the outcomes of gonadotropin-releasing hormone agonist (GnRHa) therapy with or without growth hormone (GH) therapy for girls with idiopathic central precocious puberty (CPP). METHODS: The...
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Iodine status and characteristics of Korean adolescents and their parents based on urinary iodine concentration: a nationwide cross-sectional study

Choi YC, Cheong JI, Chueh HW, Yoo JH

PURPOSE: Iodine is a major component of thyroid hormones. Both deficiency and excess of iodine are major risk factors for thyroid disease, making it important to accurately assess iodine level...
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Serum osteocalcin levels in overweight children

Oh SB, Lee WY, Nam HK, Rhie YJ, Lee KH

PURPOSE: Bone plays a role in glucose metabolism through the release of uncarboxylated osteocalcin into the systemic circulation. The identified novel roles for osteocalcin include increasing insulin secretion and sensitivity,...
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Acanthosis nigricans as a clinical marker of insulin resistance among overweight adolescents

Videira-Silva A, Albuquerque C, Fonseca H

PURPOSE: Acanthosis nigricans (AN) is a hyperpigmented dermatosis associated with obesity and insulin resistance (IR). There is no consensus whether AN extension scoring offers added value to the clinical estimation...
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Risk of cancer in patients treated with recombinant human growth hormone in childhood

Cianfarani S

Recombinant human growth hormone (GH) has been in use for over 30 years, and its indications have gradually expanded from the classical replacement therapy in GH deficiency (GHD) to pharmacological...
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Early-life exposure to endocrine-disrupting chemicals and pubertal development in girls

Lee JE, Jung HW, Lee YJ, Lee YA

Over the last decades, the onset of puberty in girls has occurred earlier, but the tempo of pubertal progression has been relatively slower, resulting in a younger age at puberty...
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Update on the current modalities used to screen high risk youth for prediabetes and/or type 2 diabetes mellitus

Brar PC

The modalities currently employed to screen for type 2 diabetes mellitus (T2DM)/prediabetes are HbA1(c), fasting plasma glucose (FPG), and 2-hour plasma glucose (PG) during an oral glucose tolerance test (OGTT)....
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