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Glycogenic hepatopathy in a Korean girl with poorly controlled type 1 diabetes mellitus.

Hwal Rim JEONG ; Young Seok SHIM ; Young Bae KIM ; Hae Sang LEE ; Jin Soon HWANG

Annals of Pediatric Endocrinology & Metabolism.2014;19(1):49-52. doi:10.6065/apem.2014.19.1.49

Glycogenic hepatopathy (GH) is a rare complication of type 1 diabetes mellitus. We report the case of a 13-year-old diabetic female with poorly controlled blood sugar levels who presented with abdominal pain and distention 1 month in duration. She exhibited tender hepatomegaly, an elevated lipid profile, and elevated serum transaminase levels. Her liver histology was consistent with GH. The pathophysiology and/or underlying genetic background of GH remains unclear. The optimum treatment for GH is optimal glycemic control, and the prognosis is favorable. Clinicians should be aware of the possibility of GH and observe the clinical response to optimal glycemic control prior to invasive investigation.
Abdominal Pain ; Adolescent ; Blood Glucose ; Diabetes Mellitus, Type 1* ; Female ; Glycogen* ; Hepatomegaly ; Humans ; Liver ; Prognosis

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Giant juvenile fibroadenoma of the breast: a case report and brief literature review.

Bong Sup SONG ; Eun Kyu KIM ; Hyesil SEOL ; Ju Hee SEO ; Jun Ah LEE ; Dong Ho KIM ; Jung Sub LIM

Annals of Pediatric Endocrinology & Metabolism.2014;19(1):45-48. doi:10.6065/apem.2014.19.1.45

A girl (age, 12 years 11 months) consulted the pediatric endocrinology clinic because of a rapidly growing right breast mass over 13 cm observed during the preceding 3 months. A surgical excision was performed, and the mass was diagnosed as a giant juvenile fibroadenoma. Giant juvenile fibroadenomas are rare, usually occurring between 10 and 18 years of age, and characterized by massive and rapid enlargement of an encapsulated mass. The etiology is believed to be an end-organ hypersensitivity to normal levels of estrogen. We report a case of giant juvenile fibroadenoma and present a review of the diagnostic workup and management of a large breast tumor during adolescence.
Adolescent ; Breast Neoplasms ; Breast* ; Endocrinology ; Estrogens ; Female ; Fibroadenoma* ; Humans ; Hypersensitivity

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Mosaic Turner syndrome associated with schizophrenia.

Sook Young JUNG ; Joo Won PARK ; Dong Hyun KIM ; Yong Hoon JUN ; Jeong Seop LEE ; Ji Eun LEE

Annals of Pediatric Endocrinology & Metabolism.2014;19(1):42-44. doi:10.6065/apem.2014.19.1.42

Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome.
Comorbidity ; Female ; Humans ; Hypothyroidism ; Intellectual Disability ; Karyotype ; Monosomy ; Mosaicism ; Parturition ; Schizophrenia* ; Turner Syndrome* ; X Chromosome ; Young Adult

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A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature.

Chong Kun CHEON ; Hoon Sang LEE ; Su Yung KIM ; Min Jung KWAK ; Gu Hwan KIM ; Han Wook YOO

Annals of Pediatric Endocrinology & Metabolism.2014;19(1):36-41. doi:10.6065/apem.2014.19.1.36

X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene defects in XLH have been revealed; these include missense mutations, nonsense mutations, splice site mutations, insertions, and deletions. Recently, we encountered a 2-year-9-month-old female with sporadic hypophosphatemic rickets. She underwent osteotomy, dental abscess was evident, and there was severe bowing of the legs. A low serum phosphorus level in combination with elevated serum alkaline phosphatase activity and normal serum calcium is suggestive of hypophosphatemic rickets. PHEX gene analysis revealed a splice acceptor site mutation, c.934-1G>T (IVS8-1G>T), at the intron8 and exon9 junction. To the best of our knowledge, this mutation is novel and has not been reported. The results of this study expand and improve our understanding of the clinical and molecular characteristics and the global pool of patients with sporadic hypophosphatemic rickets.
Abscess ; Alkaline Phosphatase ; Calcium ; Codon, Nonsense ; Familial Hypophosphatemic Rickets ; Female ; Humans ; Leg ; Mutation, Missense ; Osteotomy ; Phosphorus ; Rickets, Hypophosphatemic* ; RNA Splice Sites

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Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency.

Ja Hye KIM ; Ja Hyang CHO ; Han Wook YOO ; Jin Ho CHOI

Annals of Pediatric Endocrinology & Metabolism.2014;19(1):32-35. doi:10.6065/apem.2014.19.1.32

PURPOSE: Growth hormone (GH) plays a key role in the regulation of body composition, lipid metabolism, and quality of life in adults with GH deficiency (GHD). This study investigated changes in laboratory findings and body composition after GH recommencement for adult GHD and analyzed correlation between GH interruption period and endocrine or anthropometric parameters. METHODS: A total of 45 patients (17 females and 28 males) diagnosed with childhood-onset GHD (CO-GHD) were investigated and all patients had organic brain lesions. Patients diagnosed CO-GHD were retested to confirm adult GHD at age 20.4+/-5.0 years (18.0-32.1 years). Recombinant human GH was administered at a dose of 0.44 mg/day. Clinical and laboratory parameters such as weight, height, body mass index (BMI), serum insulin-like growth factor 1 (IGF-1), serum total cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, and triglyceride levels, were compared between baseline and 12 months after treatment using paired t-test. In addition, correlation between GH interruption period and clinical parameters including BMI, lipid profile, IGF-1, and IGFBP-3, was analyzed. RESULTS: Of 45 patients, 33 patients had GH interruption period of 4.3+/-3.6 years (0.7-12.5 years). Serum HDL-cholesterol level increased significantly, whereas LDL-cholesterol decreased after 1 year of GH replacement therapy. However, body weight and BMI showed no significant changes after 1 year of GH replacement therapy. There were no significant correlations between GH interruption period and lipid profile or anthropometric parameters. CONCLUSION: BMI and body weight were not affected by GH replacement. However, GH replacement in adults with GHD offers benefits in lipid metabolism.
Adult* ; Body Composition ; Body Height ; Body Mass Index ; Body Weight ; Brain ; Cholesterol ; Dwarfism, Pituitary ; Female ; Growth Hormone* ; Humans ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Lipid Metabolism ; Lipoproteins ; Quality of Life ; Triglycerides

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Age of menarche and near adult height after long-term gonadotropin-releasing hormone agonist treatment in girls with central precocious puberty.

Joon Woo BAEK ; Hyo Kyoung NAM ; Dahee JIN ; Yeon Joung OH ; Young Jun RHIE ; Kee Hyoung LEE

Annals of Pediatric Endocrinology & Metabolism.2014;19(1):27-31. doi:10.6065/apem.2014.19.1.27

PURPOSE: Gonadotropin-releasing hormone agonist (GnRHa) is known for improving final adult height in patients with central precocious puberty (CPP). This study aimed to investigate the age of menarche and near adult height in girls with CPP who had been treated with GnRHa. METHODS: In this retrospective study, we reviewed the medical records of 71 Korean girls with CPP who had started menarche or reached over 13 years of bone age after long-term GnRHa treatment. We estimated near adult height using the Bayley-Pinneau method and identified the age of menarche in girls with CPP. RESULTS: Mean chronological and bone age at menarche were 11.9+/-0.7 and 12.8+/-0.4 years, respectively. The period between menarche and the end of treatment was 14.0+/-5.6 months. Posttreatment near adult height was 163.8+/-4.7 cm, which was significantly greater than pretreatment predicted adult height (158.7+/-4.1 cm). CONCLUSION: GnRHa treatment in girls with CPP could improve final adult height and made the age of menarche close to that of the general population.
Adult* ; Female ; Gonadotropin-Releasing Hormone* ; Humans ; Medical Records ; Menarche* ; Puberty, Precocious* ; Retrospective Studies

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Clinical and radiological findings of incidental Rathke's cleft cysts in children and adolescents.

Yeon Joung OH ; Hong Kyu PARK ; Seung YANG ; Jun Ho SONG ; Il Tae HWANG

Annals of Pediatric Endocrinology & Metabolism.2014;19(1):20-26. doi:10.6065/apem.2014.19.1.20

PURPOSE: In the pediatric population, Rathke's cleft cysts (RCCs) are known to be an infrequent cause of headaches, visual disturbances, and pituitary dysfunction. We investigated the clinical characteristics of children in whom RCCs were incidentally discovered and evaluated whether RCCs influence the treatment response of patients with proven endocrinopathy. METHODS: A retrospective analysis was conducted in 34 patients with RCCs who were diagnosed between 2006 and 2013 at Hallym University Medical Center. Their clinical, hormonal, and imaging findings were reviewed. We evaluated the clinical outcomes of the patients with concomitant RCCs and endocrinopathy compared to matched controls. RESULTS: Twenty-six of 34 patients with radiologically proven RCCs had endocrine disorders. They were 9 boys and 17 girls, with ages ranging from 4.8 to 17.4 years at the time of the diagnosis. Of these, 7 (27%) had idiopathic short stature, 7 (27%) had growth hormone deficiency (GHD), and 12 (46%) had central precocious puberty (CPP). Nineteen of 26 patients (73.1%) showed low signal intensities on T1-weighted images (T1WI) and high signal intensities on T2-weighted images. The incidence of hypointensity on T1WI was higher in the patients with RCCs accompanied by endocrinopathy than in those without endocrinopathy (P=0.033). The treatment outcomes of the patients with CPP and GHD with and without RCCs were similar. CONCLUSION: CPP and GHD patients with a small RCC (less than 20 mm) expressing cystic magnetic resonance intensity can be managed with medical treatment, although the RCCs need to be closely monitored in radiological studies to observe their growth.
Academic Medical Centers ; Adolescent* ; Central Nervous System Cysts* ; Child* ; Diagnosis ; Dwarfism, Pituitary ; Female ; Growth Hormone ; Headache ; Humans ; Incidence ; Puberty, Precocious ; Retrospective Studies

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Serum vitamin D status in children and adolescence with diabetes according to season and age.

Sung Su JUNG ; Min Sun KIM ; Dae Yeol LEE

Annals of Pediatric Endocrinology & Metabolism.2014;19(1):13-19. doi:10.6065/apem.2014.19.1.13

PURPOSE: It is known that children with diabetes have more severe vitamin D deficiency than healthy children. This study aimed to investigate serum vitamin D status and analyze the relationships between serum vitamin D levels and clinical parameters in children with diabetes. METHODS: We checked serum vitamin D levels of children with diabetes aged below 18 years who were treated at our Department of Pediatrics between December 2011 and February 2012 (winter) as well as between June 2012 and August 2012 (summer). We retrospectively analyzed relationships between their serum vitamin D levels and clinical parameters. RESULTS: The serum 25-hydroxyvitamin D level in children with diabetes during winter was markedly lower than during summer (10.8+/-5.1 ng/mL vs. 17.6+/-5.6 ng/mL); vitamin D deficiency was more prevalent during winter (95% vs. 62%). However, there was no difference between children with diabetes and healthy children. In children with type I diabetes mellitus, among all the clinical parameters, age had the greatest negative correlation with serum vitamin D level. CONCLUSION: In children with diabetes, serum vitamin D levels showed marked seasonal variation. However, no clear relationship was identified between vitamin D deficiency and diabetes. This was because the control group had an equally high vitamin D deficiency rate. Additional studies including other clinical parameters after vitamin D supplementation in children with diabetes should be considered.
Adolescent* ; Child* ; Diabetes Mellitus ; Humans ; Pediatrics ; Retrospective Studies ; Seasons* ; Vitamin D Deficiency ; Vitamin D* ; Vitamins*

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Iodine and thyroid function.

Hye Rim CHUNG

Annals of Pediatric Endocrinology & Metabolism.2014;19(1):8-12. doi:10.6065/apem.2014.19.1.8

Severe iodine deficiency causes hypothyroidism that results in impaired somatic growth and motor development in children. Mild and moderate iodine deficiencies cause multifocal autonomous growth of thyroid, which results in thyrotoxicosis. On the other hand, iodine excess is associated with the development of hypothyroidism and thyroid autoimmunity. In areas of iodine deficiency, a sudden increase in iodine intake is associated with transient hyperthyroidism. Recent studies demonstrated that long-term thyroid function of subjects who experienced both iodine deficiency and iodine excess during childhood tended to be abnormal despite optimization of their current iodine intake. Iodine status in the Korean Peninsula is very unique because people in the Republic of Korea have been shown to have predominantly excessive iodine levels, whereas the Democratic People's Republic of Korea is known to be an iodine-deficient area. Further research is warranted to verify the optimal ranges of iodine intake and to clarify the effects of iodine intake on thyroid disorders in the Korean Peninsula.
Autoimmunity ; Child ; Democratic People's Republic of Korea ; Hand ; Humans ; Hyperthyroidism ; Hypothyroidism ; Iodine* ; Republic of Korea ; Thyroid Gland* ; Thyrotoxicosis

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Growth hormone treatment in non-growth hormone-deficient children.

Sandro LOCHE ; Luisanna CARTA ; Anastasia IBBA ; Chiara GUZZETTI

Annals of Pediatric Endocrinology & Metabolism.2014;19(1):1-7. doi:10.6065/apem.2014.19.1.1

Until 1985 growth hormone (GH) was obtained from pituitary extracts, and was available in limited amounts only to treat severe growth hormone deficiency (GHD). With the availability of unlimited quantities of GH obtained from recombinant DNA technology, researchers started to explore new modalities to treat GHD children, as well as to treat a number of other non-GHD conditions. Although with some differences between different countries, GH treatment is indicated in children with Turner syndrome, chronic renal insufficiency, Prader-Willi syndrome, deletions/mutations of the SHOX gene, as well as in short children born small for gestational age and with idiopathic short stature. Available data from controlled trials indicate that GH treatment increases adult height in patients with Turner syndrome, in patients with chronic renal insufficiency, and in short children born small for gestational age. Patients with SHOX deficiency seem to respond to treatment similarly to Turner syndrome. GH treatment in children with idiopathic short stature produces a modest mean increase in adult height but the response in the individual patient is unpredictable. Uncontrolled studies indicate that GH treatment may be beneficial also in children with Noonan syndrome. In patients with Prader-Willi syndrome GH treatment normalizes growth and improves body composition and cognitive function. In any indication the response to GH seems correlated to the dose and the duration of treatment. GH treatment is generally safe with no major adverse effects being recorded in any condition.
Adult ; Body Composition ; Child* ; DNA, Recombinant ; Genes, vif ; Gestational Age ; Growth Hormone* ; Humans ; Insulin-Like Growth Factor I ; Noonan Syndrome ; Prader-Willi Syndrome ; Renal Insufficiency, Chronic ; Turner Syndrome

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