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A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.

Gyung Min LEE ; Jung Min KO ; Choong Ho SHIN ; Sei Won YANG

Annals of Pediatric Endocrinology & Metabolism.2014;19(2):108-112. doi:10.6065/apem.2014.19.2.108

The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans. Here, we report a 4.2-year-old SRY-negative 46,XX boy with complete sex reversal caused by SOX9 duplication for the first time in Korea. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction (PCR) analyses failed to detect the presence of SRY, and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.
46, XX Testicular Disorders of Sex Development ; Diagnosis ; Disorders of Sex Development ; Female ; Fluorescence ; Genes, sry ; Genetic Counseling ; Genitalia, Male ; Gonads ; Humans ; In Situ Hybridization ; Korea ; Male ; Phenotype ; Polymerase Chain Reaction ; Real-Time Polymerase Chain Reaction ; Sexual Development* ; Testis

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Refractory acute suppurative thyroiditis secondary to pyriform sinus fistula.

Jee Hyue SEO ; Yong Hoon PARK ; Sei Won YANG ; Hyun Young KIM

Annals of Pediatric Endocrinology & Metabolism.2014;19(2):104-107. doi:10.6065/apem.2014.19.2.104

Acute suppurative thyroiditis is a rare disease because the thyroid gland is remarkably resistant to infection. We present a 2-year-old girl with refractory acute suppurative thyroiditis due to a pyriform sinus fistula (PSF). She complained of fever and painful anterior neck swelling. Her condition did not completely improved by multiple parenteral antibiotics along with incision and drainage. Barium esophagogram to detect PSF demonstrated no specific finding. Computed tomography scan showed air bubble superior to the left thyroid gland which indicated a possible fistula connected to the pyriform sinus. An intraoperative laryngoscopy revealed a 2-mm-sized fistula opening. The fistula was successfully treated by chemocauterization with trichloroacetic acid.
Anti-Bacterial Agents ; Barium ; Cautery ; Child, Preschool ; Drainage ; Female ; Fever ; Fistula* ; Humans ; Laryngoscopy ; Neck ; Pyriform Sinus* ; Rare Diseases ; Thyroid Gland ; Thyroiditis ; Thyroiditis, Suppurative* ; Trichloroacetic Acid

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Denys-Drash syndrome, Septated Vagina And Low Level Of Anti-mullerian Hormone In male neonate.

Hong Jun LEE ; Jung Sook YEOM ; Ji Sook PARK ; Eun Sil PARK ; Ji Hyun SEO ; Jae Young LIM ; Chan Hoo PARK ; Hyang Ok WOO ; Hee Shang YOUN

Annals of Pediatric Endocrinology & Metabolism.2014;19(2):100-103. doi:10.6065/apem.2014.19.2.100

There is a wide variety of genital abnormalities observed in patients with Denys-Drash syndrome (DDS). WT1 is thought to influence the genes related to genital development and mutations in this gene have been associated with DDS. DDS should be considered in the differential diagnosis of newborns with genital anomalies. In contrast to other conditions with 46,XY disorders of sex development, individuals with DDS often have duplicated genital organs (a double vagina, cervix or uterus). A double uterus has not yet been reported with 1390G>A (Arg464 Asn) mutation. However, duplicated genitals have been reported with other genetic mutations in patients with DDS. The duplicated genitals in DDS may be associated with low anti-Mullerian hormone (AMH) secretion. Measurement of the AMH levels may add to our understanding of variations in genital development and their abnormalities in disorders such as DDS. In conclusion, this is first case of low level of AMH and double uterus in 1390G>A (Arg464 Asn) mutations of DDS male.
46, XY Disorders of Sex Development ; Anti-Mullerian Hormone* ; Cervix Uteri ; Denys-Drash Syndrome* ; Diagnosis, Differential ; Female ; Genitalia ; Humans ; Infant, Newborn* ; Male ; Uterus ; Vagina*

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Gigantism caused by growth hormone secreting pituitary adenoma.

Noorisaem RHEE ; Kumi JEONG ; Eun Mi YANG ; Chan Jong KIM

Annals of Pediatric Endocrinology & Metabolism.2014;19(2):96-99. doi:10.6065/apem.2014.19.2.96

Gigantism indicates excessive secretion of growth hormones (GH) during childhood when open epiphyseal growth plates allow for excessive linear growth. Case one involved a 14.7-year-old boy presented with extreme tall stature. His random serum GH level was 38.4 ng/mL, and failure of GH suppression was noted during an oral glucose tolerance test (OGTT; nadir serum GH, 22.7 ng/mL). Magnetic resonance imaging (MRI) of the brain revealed a 12-mm-sized pituitary adenoma. Transsphenoidal surgery was performed and a pituitary adenoma displaying positive immunohistochemical staining for GH was reported. Pituitary MRI scan was performed 4 months after surgery and showed recurrence/residual tumor. Medical treatment with a long-acting somatostatin analogue for six months was unsuccessful. As a result, secondary surgery was performed. Three months after reoperation, the GH level was 0.2 ng/mL and insulin-like growth factor 1 was 205 ng/mL. Case two involved a 14.9-year-old boy, who was referred to our department for his tall stature. His basal GH level was 9.3 ng/mL, and failure of GH suppression was reported during OGTT (nadir GH, 9.0 ng/mL). Pituitary MRI showed a 6-mm-sized pituitary adenoma. Surgery was done and histopathological examination demonstrated a pituitary adenoma with positive staining for GH. Three months after surgery, the GH level was 0.2 ng/mL and nadir GH during OGTT was less than 0.1 ng/mL. Pituitary MRI scans showed no residual tumor. We present two cases of gigantism caused by a GH-secreting pituitary adenoma with clinical and microscopic findings.
Brain ; Gigantism* ; Glucose Tolerance Test ; Growth Hormone* ; Growth Hormone-Secreting Pituitary Adenoma ; Growth Plate ; Humans ; Magnetic Resonance Imaging ; Male ; Neoplasm, Residual ; Pituitary Neoplasms* ; Reoperation ; Somatostatin

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Associations between serum vitamin D levels and precocious puberty in girls.

Hae Sang LEE ; You Jin KIM ; Young Seok SHIM ; Hwal Rim JEONG ; Eunbyul KWON ; Jin Soon HWANG

Annals of Pediatric Endocrinology & Metabolism.2014;19(2):91-95. doi:10.6065/apem.2014.19.2.91

PURPOSE: Vitamin D deficiency has been linked to chronic diseases, such as diabetes mellitus, obesity and autoimmune disease. However, data on the vitamin D status and its association with precocious puberty in girls are limited. We aimed to investigate the association between serum 25-hydroxyvitamin D (25OHD) and precocious puberty in girls. METHODS: A total of 60 girls with central precocious puberty (CPP) and 30 control girls were enrolled. Anthropometric measurement and serum level of 25OHD were estimated for all subjects. RESULTS: There was a significant difference in the mean serum 25OHD concentration between the precocious puberty group and the control group (17.1+/-4.5 ng/mL vs. 21.2+/-5.0 ng/mL, P<0.05). Forty-two of the 60 girls with CPP (70%) had vitamin D deficiency (defined as serum 25OHD<20 ng/mL) and 18 (30%) had vitamin D insufficiency. Of the 30 girls in the control group, vitamin D deficiency was seen in 13 subjects (43.3%), 15 subjects (50%) had vitamin D insufficiency, and 2 subjects (6.7%) had sufficient serum vitamin D (defined as serum 25OHD>30 ng/mL). Vitamin D deficient girls had a significantly higher odds ratio (OR, 3.05; 95% CI, 1.22-7.57, P=0.021). CONCLUSION: These results showed that vitamin D levels may be associated with precocious puberty. Further studies are required to establish the potential effect of vitamin D status on puberty.
Adolescent ; Autoimmune Diseases ; Chronic Disease ; Diabetes Mellitus ; Female ; Humans ; Obesity ; Odds Ratio ; Puberty ; Puberty, Precocious* ; Vitamin D Deficiency ; Vitamin D*

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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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XYY syndrome: a 13-year-old boy with tall stature.

Won Ha JO ; Mo Kyung JUNG ; Ki Eun KIM ; Hyun Wook CHAE ; Duk Hee KIM ; Ah Reum KWON ; Ho Seong KIM

Annals of Pediatric Endocrinology & Metabolism.2015;20(3):170-173. doi:10.6065/apem.2015.20.3.170

When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out.
Adolescent* ; Adult ; Androgen-Insensitivity Syndrome ; Estrogens ; Growth Disorders ; Growth Hormone ; Humans ; Klinefelter Syndrome ; Male* ; Marfan Syndrome ; Phenotype ; Reference Values ; Sex Chromosome Disorders ; Sex Chromosomes

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Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes.

Hyun Ah JEONG ; Yoon Kyoung PARK ; Yeong Sang JUNG ; Myung Hyun NAM ; Hyo Kyoung NAM ; Kee Hyoung LEE ; Young Jun RHIE

Annals of Pediatric Endocrinology & Metabolism.2015;20(4):230-234. doi:10.6065/apem.2015.20.4.230

Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing mineralocorticoid resistance that results in urinary salt wasting, failure to thrive, metabolic acidosis, and dehydration. PHA1 is heterogeneous in etiology. Inactivating mutations in the NR3C2 gene (4q31.1), which encodes the mineralocorticoid receptor, causes a less severe autosomal dominant form that is restricted to the kidney, while mutations in the amiloride-sensitive epithelial sodium channel gene (alpha subunit=SCNN1A, 12p13; beta subunit=SCNN1b, 16p12.2-p12.1; gamma subunit=SCNN1G, 16p12) causes a more severe autosomal recessive form, which has systemic effects. Here we report a neonatal case of kidney restricted PHA1 (renal type of PHA1) who first showed laboratory abnormalities before obvious PHA1 manifestations, with two functional polymorphisms in the NR3C2 gene. This is the second genetically confirmed case in Korea and the first to show functional polymorphisms that have previously been reported in the literature.
Acidosis ; Dehydration ; Epithelial Sodium Channels ; Failure to Thrive ; Humans ; Hyperkalemia ; Hyponatremia ; Infant, Newborn* ; Kidney ; Korea ; Male* ; Pseudohypoaldosteronism* ; Receptors, Mineralocorticoid*

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