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Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene.

Annals of Pediatric Endocrinology & Metabolism.2014;19(4):229-231. doi:10.6065/apem.2014.19.4.229

Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THRbeta) gene. Despite elevated serum levels of free thyroid hormones and thyroid stimulating hormone (TSH), the paucity of symptoms and signs of thyroid dysfunction suggest RTH. We report the case of a 9-year-old girl with goiter. Her thyroid function tests showed increased serum levels of free thyroxine, triiodothyronine, and TSH. The genetic analysis of THRbeta confirmed a novel mutation in exon 9; this was a heterozygous C-to-T change in the 327th codon, substituting threonine for isoleucine (T327I).
Child ; Codon ; Exons ; Female ; Goiter ; Humans ; Isoleucine ; Threonine ; Thyroid Function Tests ; Thyroid Gland* ; Thyroid Hormone Receptors beta* ; Thyroid Hormone Resistance Syndrome ; Thyroid Hormones ; Thyrotropin ; Thyroxine ; Triiodothyronine

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Turner syndrome masquerading as normal early puberty.

Yong Hee HONG ; Young Lim SHIN

Annals of Pediatric Endocrinology & Metabolism.2014;19(4):225-228. doi:10.6065/apem.2014.19.4.225

Approximately 50% of patients with Turner syndrome (TS) have complete loss of one X chromosome, whereas the rest of the patients with TS display mosaicism or structural abnormalities of the X chromosome. Most well-known common features are short stature and gonadal failure. Approximately one third of girls with TS may enter spontaneous puberty, but only half those completed with menarche. However, some atypical features of TS have been described. Many studies have been conducted to verify and delineate proposed loci for genes pertaining to the TS phenotype, and correlations between karyotype and phenotype. A few rare cases of precocious puberty with TS have been described. Here we describe a case of TS with the Xp22.1 deletion presenting with short final stature, early normal onset of spontaneous puberty, and Graves' disease, without short stature during puberty.
Adolescent ; Female ; Gonads ; Graves Disease ; Humans ; Karyotype ; Menarche ; Mosaicism ; Phenotype ; Puberty* ; Puberty, Precocious ; Turner Syndrome* ; X Chromosome

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Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family.

Myo Jing KIM ; Young Eun KIM ; Chang Seok KI ; Jae Ho YOO

Annals of Pediatric Endocrinology & Metabolism.2014;19(4):220-224. doi:10.6065/apem.2014.19.4.220

Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII) gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP). Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T). This is the first report of such a case in Korea.
Arginine Vasopressin ; Diabetes Insipidus, Neurogenic* ; Exons ; Family Characteristics* ; Humans ; Korea ; Mutation, Missense ; Polydipsia ; Polyuria

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Adult height in girls with central precocious puberty treated with gonadotropin-releasing hormone agonist with or without growth hormone.

Mo Kyung JUNG ; Kyung Chul SONG ; Ah Reum KWON ; Hyun Wook CHAE ; Duk Hee KIM ; Ho Seong KIM

Annals of Pediatric Endocrinology & Metabolism.2014;19(4):214-219. doi:10.6065/apem.2014.19.4.214

PURPOSE: There is controversy surrounding the growth outcomes of treatment with gonadotropin-releasing hormone agonist (GnRHa) in central precocious puberty (CPP). We analyzed height preservation after treatment with GnRHa with and without growth hormone (GH) in girls with CPP. METHODS: We reviewed the medical records of 82 girls with idiopathic CPP who had been treated with GnRHa at Severance Children's Hospital from 2004 to 2014. We assessed the changes in height standard deviation score (SDS) for bone age (BA), and compared adult height (AH) with midparental height (MPH) and predicted adult height (PAH) during treatment in groups received GnRHa alone (n=59) or GnRHa plus GH (n=23). RESULTS: In the GnRHa alone group, the height SDS for BA was increased during treatment. AH (160.4+/-4.23 cm) was significantly higher than the initial PAH (156.6+/-3.96 cm) (P<0.001), and it was similar to the MPH (159.9+/-3.52 cm). In the GnRHa plus GH group, the height SDS for BA was also increased during treatment. AH (159.3+/-5.33 cm) was also higher than the initial PAH (154.6+/-2.55 cm) (P<0.001), which was similar to the MPH (158.1+/-3.31 cm). Height gain was slightly higher than that in the GnRHa alone group, however it statistically showed no significant correlation with GH treatment. CONCLUSION: In CPP girls treated with GnRHa, the height SDS for BA was increased, and the AH was higher than the initial PAH. Combined GH treatment showed a limited increase in height gain.
Adult* ; Female ; Gonadotropin-Releasing Hormone* ; Growth Hormone* ; Humans ; Medical Records ; Puberty, Precocious* ; Treatment Outcome

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Relationship between serum insulin-like growth factor-1, IGF binding protein-3 levels and body height before and after gonadotropin-releasing hormone agonist therapy.

Han Sol SONG ; Won Bok CHOI ; Joon Sup SONG ; Il Tae HWANG ; Seung YANG

Annals of Pediatric Endocrinology & Metabolism.2014;19(4):208-213. doi:10.6065/apem.2014.19.4.208

PURPOSE: The gonadotropin-releasing hormone agonist (GnRHa) is widely used to treat patients with precocious puberty. However, its effect on growth is often difficult to predict because of the diverse nature of its causes and presentation. This study aims to show the impact of GnRHa treatment on insulin-like growth factor-1 (IGF-I) and IGF binding protein-3 (IGFBP-3) secretion, growth, and on other parameters that may help estimate the height velocity. METHODS: Data from 60 girls (mean age, 8.8+/-0.7 years) treated with GnRHa were analyzed. Their height, bone age (BA), serum IGF-I, and IGFBP-3 concentrations were measured at the start and after a year of GnRHa treatment. To eliminate the confounding effect of chronological age (CA), the standard deviation scores (SDSs) of their height, IGF-I, and IGFBP-3 concentrations according to their CA at the start and after a year of GnRHa treatment were calculated. We looked for possible correlations between these variables and compared the subgroups based on their height velocities and midparental heights. RESULTS: During their one-year GnRHa therapy, height SDS for CA significantly decreased to 0.81+/-0.83 (P<0.001), but height SDS for BA increased to -0.28+/-0.68 (P<0.001). There was no significant change in serum IGF-I SDS, IGFBP-3 SDS, and IGF-I/IGFBP-3 ratio. The advanced BA was the factor most strongly correlated to the height velocity (R=0.265, P=0.041). CONCLUSION: These findings suggest that GnRHa treatment may affect the height velocity due to mechanisms other than suppression of the IGF-I and IGFBP-3 secretory axis.
Axis ; Body Height* ; Female ; Gonadotropin-Releasing Hormone* ; Humans ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Puberty, Precocious

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Clinical and radiological features of pituitary stalk lesions in children and adolescents.

Sung Chul YOON ; Choong Ho SHIN ; Sei Won YANG ; Seong Yong LEE

Annals of Pediatric Endocrinology & Metabolism.2014;19(4):202-207. doi:10.6065/apem.2014.19.4.202

PURPOSE: The diagnosis of pituitary stalk lesion has been based on clinical feature, radiologic assessment for its critical location and role. This study aimed to investigate clinical symptoms, endocrine disturbance, magnetic resonance imaging (MRI) findings of pituitary stalk lesions in children and adolescents and to evaluate differences between neoplastic lesions with the others. METHODS: We performed a retrospective review of patients under 18 years old with pituitary stalk lesions diagnosed at the Seoul National University Children's Hospital between 2000 and 2013, by a text search for head MRI reports by using 'pituitary stalk', 'infundibulum', and 'infundibular stalk', as keywords. RESULTS: For the 76 patients, sixteen patients (21.1%) had congenital lesions, and 52 (68.4%) had neoplasms. No inflammatory lesions were found. Diabetes insipidus (DI) was the most common endocrine defect, diagnosed in 38 patients (50%). There was male predominance especially in neoplastic group. Thickened pituitary stalk was, but enhancement of lesion was not, associated with neoplasm. DI was more prevalent in neoplastic stalk lesions. Anterior pituitary dysfunction such as growth hormone and adrenocorticotropic hormone deficiencies were less prevalent in neoplastic lesions of pituitary stalk. CONCLUSION: In conclusion, the etiology of pituitary stalk lesions in children and adolescents is diverse and different from that in adults. Neoplastic pituitary stalk lesions can be differentiated from nonneoplastic lesions by systemic evaluation of clinical, hormonal, radiological findings.
Adolescent* ; Adrenocorticotropic Hormone ; Adult ; Child* ; Diabetes Insipidus ; Diagnosis ; Growth Hormone ; Head ; Humans ; Magnetic Resonance Imaging ; Male ; Pituitary Gland* ; Pituitary Hormones ; Retrospective Studies ; Seoul

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Effects of short-term potassium iodide treatment for thyrotoxicosis due to Graves disease in children and adolescents.

Kyung Uk JEONG ; Hae Sang LEE ; Jin Soon HWANG

Annals of Pediatric Endocrinology & Metabolism.2014;19(4):197-201. doi:10.6065/apem.2014.19.4.197

PURPOSE: Graves disease is the most common cause of hyperthyroidism in children. Inorganic iodide has been used in combination with antithyroid drugs for more effective normalization of thyroid hormones in some cases of severe thyrotoxicosis. This study aimed to investigate clinical characteristics of childhood thyrotoxicosis and effectiveness of inorganic iodide in the early phase of treatment. METHODS: Sixty-seven pediatric patients (53 girls/14 boys, 11.1+/-3.4 years of age), with newly diagnosed thyrotoxicosis due to Graves disease were recruited. Forty-nine patients were treated with antithyroid drugs alone, while 18 patients were treated with combination of antithyroid drugs and potassium iodide. Initial thyroid function tests and levels of thyroid antibodies were recorded for all patients. Thyroid function tests were repeated 2 and 8 weeks after the initiation of treatment. Measurement thyroid antibodies were done 8 weeks after the initiation of treatment. RESULTS: Mean triiodothyronine and free thyroxine levels were significantly lower (P<0.05) in the group receiving combined therapy of antithyroid drugs and potassium iodide after 2 weeks of treatment compared to the patients receiving antithyroid drugs alone. Eight weeks after the initiation of treatment, thyroid function tests in the two groups did not show significant differences. CONCLUSION: The use of potassium iodide in combination with antithyroid drug is effective for more rapid normalization of thyroid hormones in the early phase treatment of childhood thyrotoxicosis, but larger studies with adequate power are needed in future.
Adolescent* ; Antibodies ; Antithyroid Agents ; Child* ; Graves Disease* ; Humans ; Hyperthyroidism ; Potassium Iodide* ; Thyroid Function Tests ; Thyroid Gland ; Thyroid Hormones ; Thyrotoxicosis* ; Thyroxine ; Triiodothyronine

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Serum lipid profiles and glycemic control in adolescents and young adults with type 1 diabetes mellitus.

Shin Hee KIM ; In Ah JUNG ; Yeon Jin JEON ; Won Kyoung CHO ; Kyoung Soon CHO ; So Hyun PARK ; Min Ho JUNG ; Byoung Kyu SUH

Annals of Pediatric Endocrinology & Metabolism.2014;19(4):191-196. doi:10.6065/apem.2014.19.4.191

PURPOSE: We aimed to investigate serum lipid profiles and glycemic control in adolescents and young adults with type 1diabetes mellitus (T1DM). METHODS: This cross-sectional study included 29 Korean young adults and adolescents with T1DM. The median age was 17 years (range, 10-25 years) and 18 (62.1%) were female. We compared the lipid profiles of patients with dyslipidemia and those without dyslipidemia. Correlations between glycosylated hemoglobin (HbA1c) and lipid profiles (total cholesterol [TC], low-density lipoprotein cholesterol [LDL-C], high-density lipoprotein cholesterol [HDL-C], and triglyceride [TG]) were determined by linear regression analysis. RESULTS: Of the 29 patients with T1DM, 11 (37.9%) were classified as having dyslipidemia due to the following lipid abnormality: TC> or =200 mg/dL in 8 patients, LDL-C> or =130 mg/dL in 4 patients, TG> or =150 mg/dL in 2 patients, and HDL-C< or =35 mg/dL in 2 patients. Compared to patients without dyslipidemia, patients with dyslipidemia were more likely to have higher values of HbA1c (median, 10.6%; range, 7.5%-12.3% vs. median, 8.0%; range, 6.6%-10.0%; P=0.002) and a higher body mass index z score (median, 0.7; range, -0.57 to 2.6 vs. median, -0.4; range, -2.5 to 2.2; P=0.02). HbA1c levels were positively correlated with TC (P=0.03, R2=0.156) and TG (P=0.005, R2=0.261). CONCLUSION: A substantial proportion of adolescents and young adults with T1DM had dyslipidemia. We found a correlation between poor glycemic control and poor lipid profiles in those patients.
Adolescent* ; Body Mass Index ; Cholesterol ; Cross-Sectional Studies ; Diabetes Mellitus ; Diabetes Mellitus, Type 1* ; Dyslipidemias ; Female ; Glycemic Index ; Hemoglobin A, Glycosylated ; Humans ; Linear Models ; Lipoproteins ; Prevalence ; Triglycerides ; Young Adult*

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Endocrine disorders and the neurologic manifestations.

Jeesuk YU

Annals of Pediatric Endocrinology & Metabolism.2014;19(4):184-190. doi:10.6065/apem.2014.19.4.184

The nervous system and the endocrine system are closely interrelated and both involved intimately in maintaining homeostasis. Endocrine dysfunctions may lead to various neurologic manifestations such as headache, myopathy, and acute encephalopathy including coma. It is important to recognize the neurologic signs and symptoms caused by the endocrine disorders while managing endocrine disorders. This article provides an overview of the neurologic manifestations found in various endocrine disorders that affect pediatric patients. It is valuable to think about 'endocrine disorder' as a cause of the neurologic manifestations. Early diagnosis and treatment of hormonal imbalance can rapidly relieve the neurologic symptoms. Better understanding of the interaction between the endocrine system and the nervous system, combined with the knowledge about the pathophysiology of the neurologic manifestations presented in the endocrine disorders might allow earlier diagnosis and better treatment of the endocrine disorders.
Child ; Coma ; Diagnosis ; Early Diagnosis ; Endocrine System ; Endocrine System Diseases ; Headache ; Homeostasis ; Humans ; Muscular Diseases ; Nervous System ; Neurologic Manifestations*

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Congenital lipoid adrenal hyperplasia.

Chan Jong KIM

Annals of Pediatric Endocrinology & Metabolism.2014;19(4):179-183. doi:10.6065/apem.2014.19.4.179

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder.
Alleles ; Asian Continental Ancestry Group ; Cholesterol ; Cholesterol Side-Chain Cleavage Enzyme ; Female ; Gonads ; Humans ; Hyperplasia* ; Male ; Placenta ; Pregnancy ; Pregnenolone ; Progesterone

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