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Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus.

Dong Yoon YOO ; Hae Jung KIM ; Kee Hyun CHO ; Eun Byul KWON ; Eun Gyong YOO

Annals of Pediatric Endocrinology & Metabolism.2017;22(2):133-138. doi:10.6065/apem.2017.22.2.133

Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents. Imperforate anus and partial cleft palate were found at birth, which were surgically repaired thereafter. There was no history of neonatal hypocalcemia, and karyotyping by GTG banding was normal. At the age of 11, hypocalcemia (serum calcium, 5.0 mg/dL) and decreased parathyroid hormone level (10.8 pg/mL) was noted when she visited our Emergency Department for fever and vomiting. The 22q11DS was suspected because of her mild mental retardation and velopharyngeal insufficiency, and a microdeletion on chromosome 22q11.2 was confirmed by fluorescence in situ hybridization. The 22q11DS should be considered in the differential diagnosis of hypocalcemia at any age because of its wide clinical spectrum.
22q11 Deletion Syndrome* ; Anal Canal* ; Anus, Imperforate ; Calcium ; Child* ; Cleft Palate ; Delayed Diagnosis* ; Diagnosis ; Diagnosis, Differential ; DiGeorge Syndrome ; Emergency Service, Hospital ; Female* ; Fever ; Fluorescence ; Heart Defects, Congenital ; Humans ; Hypocalcemia* ; Hypoparathyroidism ; In Situ Hybridization ; Intellectual Disability ; Karyotyping ; Parathyroid Hormone ; Parents ; Parturition ; Velopharyngeal Insufficiency ; Vomiting

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2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.

Eun Kyung CHO ; Jinsup KIM ; Aram YANG ; Sung Yoon CHO ; Dong Kyu JIN

Annals of Pediatric Endocrinology & Metabolism.2017;22(2):129-132. doi:10.6065/apem.2017.22.2.129

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously. The patient exhibited the characteristic facial appearance (a flat nasal bridge, deep-set eyes, arched eyebrows, and a thin upper lip), developmental delay, mild mental retardation, peripheral nerve palsy, and Albright hereditary osteodystrophy (AHO)-like phenotypes (short stature and brachydactyly). Conventional chromosomal analysis results were normal; however, microarray-based comparative genomic hybridization revealed terminal deletion at 2q37.1q37.3. In addition, the patient was confirmed to have partial growth hormone (GH) deficiency and had shown a significant increase in growth rate after substitutive GH therapy. Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in the presence of facial dysmorphism. When patients are suspected of having a 2q37 deletion, high-resolution cytogenetic analysis is recommended.
Autism Spectrum Disorder ; Brachydactyly ; Cardiomyopathy, Dilated ; Chromosome Disorders ; Comparative Genomic Hybridization ; Cytogenetic Analysis* ; Cytogenetics* ; Deoxycytidine Monophosphate ; Diagnosis, Differential ; Eyebrows ; Growth Hormone ; Heart ; Humans ; Intellectual Disability ; Muscle Hypotonia ; Obesity ; Paralysis ; Peripheral Nerves ; Phenotype ; Toes

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Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome.

Jo Eun JUNG ; Jin Ho HUR ; Mo Kyung JUNG ; Ahreum KWON ; Hyun Wook CHAE ; Duk Hee KIM ; Ho Seong KIM

Annals of Pediatric Endocrinology & Metabolism.2017;22(2):125-128. doi:10.6065/apem.2017.22.2.125

Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported. We here report a case involving 13-year-old girl with DM caused by agenesis of the dorsal pancreas and HS diagnosed on the basis of the presence of a double-outlet right ventricle with bilateral pulmonary stenosis and intestinal malrotation with duodenal cyst. Timely diagnosis and treatment with insulin improved glycemic control.
Adolescent ; Bronchi ; Cardiovascular System ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diabetes Mellitus* ; Diagnosis ; Double Outlet Right Ventricle ; Female ; Heterotaxy Syndrome* ; Humans ; Insulin ; Lung ; Pancreas* ; Pulmonary Valve Stenosis

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Different clinical courses of central precocious girls according to their age at presentation and treatment.

Shin Ae YOON ; Heon Seok HAN ; Heon KIM ; Sung Cheol YUN

Annals of Pediatric Endocrinology & Metabolism.2013;18(1):19-25. doi:10.6065/apem.2013.18.1.19

PURPOSE: The progressivity of central precocious puberty (CPP) seems to depend on the age at presentation. We evaluated the clinical courses of CPP girls according to their age at initiation of treatment. METHODS: One hundred thirty five girls with CPP diagnosed between Jan. 2003 and Dec. 2009 and regularly followed for more than one year were included. They were treated with gonadotropin-releasing hormone agonists (GnRHa) every four weeks. Subjects were divided into two groups based on whether they were treated before (Group I, N=20) or after seven years of age (Group II, N=115). We compared the anthropometric parameters, the predicted adult height (PAH), predicted treatment periods, and the laboratory findings of the two groups every six months. RESULTS: Out of 135 CPP patients, 123 were idiopathic and twelve had neurogenic problems. At the baseline, patients' average bone age (BA) was significantly older than chronologic age (CA) and PAH was significantly shorter than target height (TH). BA and CA were significantly older in group II, but the BA/CA ratio was significantly greater in group I. The average treatment period required to overcome the CA-BA difference was 4.64 yr (group I vs II; 7.98 yr vs 4.24 yr, P < 0.01), and the period needed to overcome PAH-TH difference was 2.49 yr (group I vs II; 4.37 yr vs 2.32 yr, P < 0.01). CONCLUSION: Among the girls with CPP, the younger age group had more advanced BA than CA, and needed significantly longer treatment periods to overcome the BA-CA gap and PAH-TH gaps.
Adult ; Gonadotropin-Releasing Hormone ; Humans ; Piperazines ; Puberty, Precocious

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Response to three years of growth hormone therapy in girls with Turner syndrome.

Hong Kyu PARK ; Hae Sang LEE ; Jung Hee KO ; Il Tae HWANG ; Jin Soon HWANG

Annals of Pediatric Endocrinology & Metabolism.2013;18(1):13-18. doi:10.6065/apem.2013.18.1.13

PURPOSE: Short stature is the most common finding in patients with Turner syndrome. Improving the final adult height in these patients is a challenge both for the patients and physicians. We investigated the clinical response of patients to growth hormone treatment for height improvement over the period of three years. METHODS: Review of medical records from 27 patients with Turner syndrome treated with recombinant human growth hormone for more than 3 years was done. Differences in the changes of height standard deviation scores according to karyotype were measured and factors influencing the height changes were analyzed. RESULTS: The response to recombinant human growth hormone was an increase in the height of the subjects to a mean value of 1.1 standard deviation for subjects with Turner syndrome at the end of the 3-year treatment. The height increment in the first year was highest. The height standard deviation score in the third year was negatively correlated with the age at the beginning of the recombinant human growth hormone treatment. Different karyotypes in subjects did not seem to affect the height changes. CONCLUSION: Early growth hormone administration in subjects with Turner syndrome is helpful to improve height response to the treatment.
Adult ; Growth Hormone ; Human Growth Hormone ; Humans ; Karyotype ; Medical Records ; Treatment Outcome ; Turner Syndrome

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Role of insulin-like growth factor binding protein-3 in glucose and lipid metabolism.

Ho Seong KIM

Annals of Pediatric Endocrinology & Metabolism.2013;18(1):9-12. doi:10.6065/apem.2013.18.1.9

Insulin-like growth factor binding protein (IGFBP)-3 has roles in modulating the effect of IGFs by binding to IGFs and inhibiting cell proliferation in an IGF-independent manner. Although recent studies have been reported that IGFBP-3 has also roles in metabolic regulation, their exact roles in adipose tissue are poorly understood. In this review, we summarized the studies about the biological roles in glucose and lipid metabolism. IGFBP-3 overexpression in transgenic mice suggested that IGFBP-3 results in glucose intolerance, and insulin resistance. IGFBP-3 knockout (KO) mice exhibited normal insulin level and glucose response after glucose challenge. More recent study in IGFBP-3 KO mice with a high-fat diet demonstrated that IGFBP-3 KO mice exhibited elevated fasting glucose and insulin, but normal response to glucose challenge, suggesting that IGFBP-3 KO mice may induce insulin resistance even though preserved insulin sensitivity. In vitro and in vivo studies using 3T3-L1 adipocytes and rat, IGFBP-3 induced insulin resistance by inhibiting glucose uptake. In contrast, the reduced levels of IGFBP-3 in obesity might induce insulin resistance by suppression of IGFBP-3's anti-inflammatory function, suggesting IGFBP-3 has a protective effect on insulin resistance. Also, proteolysis of IGFBP-3 might contribute to the insulin resistance in obesity and type 2 diabetes mellitus. In addition, IGFBP-3 inhibited adipocyte differentiation, suggesting IGFBP-3 may contribute to the insulin insensitivity. Taken together, it is not yet certain that IGFBP-3 has a protective effect or enhancing effect on insulin resistance, and more studies will be needed to clarify the roles of IGFBP-3 in metabolic regulation.
Adipocytes ; Adipose Tissue ; Animals ; Carrier Proteins ; Cell Proliferation ; Diabetes Mellitus, Type 2 ; Diet, High-Fat ; Fasting ; Glucose ; Glucose Intolerance ; Insulin ; Insulin Resistance ; Insulin-Like Growth Factor Binding Protein 3 ; Lipid Metabolism ; Mice ; Mice, Transgenic ; Obesity ; Proteolysis ; Rats

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The current state of dyslipidemia in Korean children and adolescents and its management in clinical practice.

Jung Sub LIM

Annals of Pediatric Endocrinology & Metabolism.2013;18(1):1-8. doi:10.6065/apem.2013.18.1.1

Cardiovascular disease (CVD) is a leading cause of death worldwide including Korea. The risk factors of CVD are known as positive family history of early CVD, obesity, hypertension, diabetes, and dyslipidemia. Among those, dyslipidemia is one of modifiable risk factors. Dyslipidemia starts in childhood and progress to adulthood. Furthermore, dyslipidemia cause atherosclerosis and is closely related to other CVD risks. On the rationale that early identification and control of pediatric dyslipidemia will reduce the risk and severity of CVD in adulthood, the National Heart, Lung, and Blood Institute guidelines expanded to universal screening for lipid levels. However, there was no guideline for lipid screening and management in Korean children and adolescents yet. This review deals with the rationale of early identification and control of pediatric dyslipidemia along with the current Korean status of pediatric dyslipidemia. This review also deals with how to screen, diagnosis, and treatment of pediatric dyslipidemia.
Adolescent ; Atherosclerosis ; Cardiovascular Diseases ; Cause of Death ; Child ; Collodion ; Dyslipidemias ; Humans ; Hypertension ; Korea ; Mass Screening ; National Heart, Lung, and Blood Institute (U.S.) ; Obesity ; Risk Factors

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Endocrine complications during and after adolescence in a patient with cystinosis.

Moon Bae AHN ; Sung Eun KIM ; Won Kyoung CHO ; Min Ho JUNG ; Byung Kyu SUH

Annals of Pediatric Endocrinology & Metabolism.2016;21(3):174-178. doi:10.6065/apem.2016.21.3.174

Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed based on ophthalmic findings and biochemical analyses (serum leukocyte cystine measurement). Major endocrine manifestations at diagnosis included hypothyroidism, growth retardation, and hypogonadism. Despite oral cysteamine administration and renal replacement therapy, multiple complications including both endocrine and nonendocrine disorders developed during and after adolescence. In this report, we review the presenting features and factors related to the long-term complications in a patient with cystinosis.
Adolescent* ; Child ; Cysteamine ; Cystine ; Cystinosis* ; Diagnosis ; Humans ; Hypogonadism ; Hypothyroidism ; Korea ; Leukocytes ; Lysosomal Storage Diseases ; Male ; Photophobia ; Rare Diseases ; Renal Replacement Therapy

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Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A.

Ja Hyang CHO ; Eungu KANG ; Gu Hwan KIM ; Beom Hee LEE ; Jin Ho CHOI ; Han Wook YOO

Annals of Pediatric Endocrinology & Metabolism.2016;21(3):169-173. doi:10.6065/apem.2016.21.3.169

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D₃). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets. A mutation analysis of the CYP27B1 gene identified a homozygous mutation of c.589+1G>A in the splice donor site in intron 3, which was known to be pathogenic. Since that time, the patient has been under calcitriol and calcium treatment, with normal growth and development. During the follow-up period, she did not develop genu valgum, scoliosis, or nephrocalcinosis.
25-Hydroxyvitamin D3 1-alpha-Hydroxylase* ; Alkaline Phosphatase ; Calcifediol ; Calcitriol ; Calcium ; Female ; Follow-Up Studies ; Genu Valgum ; Growth and Development ; Humans ; Hyperparathyroidism, Secondary ; Hypocalcemia ; Introns ; Nephrocalcinosis ; Radius ; Rickets* ; RNA Splice Sites ; Scoliosis ; Seizures ; Ulna ; Vitamin D* ; Vitamins* ; Wrist

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Diagnostic difficulties by the unusual presentations in children and adolescents with Hashimoto thyroiditis.

Betül ERSOY ; Kiremitçi Yılmaz SENIHA ; Deniz KIZILAY ; Münevver YILMAZ ; Senol COŞKUN

Annals of Pediatric Endocrinology & Metabolism.2016;21(3):164-168. doi:10.6065/apem.2016.21.3.164

Complex clinical presentation with diverse timing of particular symptoms may cause diagnostic difficulties, especially in children and adolescents. This paper presents diagnostic difficulties and pitfalls in 3 children with acquired primary hypothyroidism due to Hashimoto's thyroiditis (HT) presenting with unusual manifestations. We described 3 children with acquired primary hypothyroidism due to HT. One of our patients had musculoskeletal pain and was diagnosed and treated as having connective tissue disease. Another patient presented with chest pain, dyspnea, and swelling in the abdomen. She had a massive pericardial effusion (PE). Two patients had severe growth failure. A third patient with Down syndrome had a small PE. Her complaint was dyspnea during sleep. All patients improved with thyroxin therapy. Patients with hypothyroidism due to HT who have complicated clinical manifestations were misdiagnosed and mismanaged at childhood and adolescence. Growth failure is an important sign in children and adolescents. In the presence of complicated manifestations in children and adolescents, thyroid dysfunction must be considered in differential diagnosis.
Abdomen ; Adolescent* ; Chest Pain ; Child* ; Connective Tissue Diseases ; Diagnosis, Differential ; Down Syndrome ; Dyspnea ; Hashimoto Disease* ; Humans ; Hypothyroidism ; Musculoskeletal Pain ; Pericardial Effusion ; Thyroid Gland ; Thyroiditis ; Thyroxine

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