Abstract:
:The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-determining region of the Y chromosome (SRY) gene. It is known that excessive expression of SRY-related high mobility group box 9 (SOX9) is the cause of SRY-negative 46,XX ovotesticular DSD in the absence of SRY. Here, we analyzed our SRY-negative case with 46,XX ovotesticular DSD. In an array comparative genomic hybridization study using a peripheral blood sample from the patient, a duplication of 1114 kb (Hg19 coordinates: chr17:69006280-70120619) in the region of 17q24.3 containing SOX9 was detected. This is the first case reported from Turkey, exhibiting SOX9 duplication in SRY-negative 46,XX ovotesticular DSD.
journal_name
J Clin Res Pediatr Endocrinoljournal_title
Journal of clinical research in pediatric endocrinologyauthors
Mengen E,Kayhan G,Kocaay P,Uçaktürk SAdoi
10.4274/jcrpe.galenos.2019.2019.0101subject
Has Abstractpub_date
2020-09-02 00:00:00pages
308-314issue
3eissn
1308-5727issn
1308-5735journal_volume
12pub_type
杂志文章abstract:OBJECTIVE:The hypothalamus plays a crucial role in the regulation of feeding behavior. The anorexigenic neuropeptide alpha-melanocyte-stimulating hormone (α-MSH) and the orexigenic neuropeptide agouti-related protein (AgRP) are among the major peptides produced in the hypothalamus. This study investigated the plasma co...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.4274/jcrpe.2136
更新日期:2016-03-05 00:00:00
abstract::Our objective is to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males, which so far includes congenital central hypothyroidism, disharmonious pubertal development (normally timed testicular growth, but delayed rise of serum testosterone), macroorchidism, increas...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2020.2020.0125
更新日期:2020-10-13 00:00:00
abstract::A 14-year-old female from Yemen presented with intense abdominal pain and headache. She was born at term to distant cousins, developmentally delayed and significantly dysmorphic. Four years ago, she was diagnosed with diabetes mellitus and undiagnosed hepatic, cardiac, genetic, neurologic, endocrine, musculoskeletal, ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v2i4.176
更新日期:2010-01-01 00:00:00
abstract::Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates. Diazoxide is the first-line drug in its treatment, but the more severe cases are usually diazoxide-resistant. Recessive ABCC8 and KCNJ11 mutations are responsible for most (82%) of the severe diazoxide-unresponsive CHI. Ora...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.1978
更新日期:2015-06-01 00:00:00
abstract::Hypopituitarism is defined as a decreased release of hypophyseal hormones, which may be caused by disease of the pituitary gland disease or hypothalamus. The clinical findings of neonatal hypopituitarism depend on the causes and on presence and extent of hormonal deficiency. Patients may be asymptomatic or may demonst...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.galenos.2018.2018.0036
更新日期:2019-02-20 00:00:00
abstract:OBJECTIVE:The aim of this study was to examine the vitamin D status of children and to determine the factors influencing serum 25-hydroxyvitamin D [25(OH)D] concentration in Turkish infants living in İzmir. METHODS:In this study, we examined the serum 25(OH)D levels of 100 infants aged 1 to 24 months and of 22 mothers...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.1938
更新日期:2015-12-01 00:00:00
abstract:OBJECTIVE:To determine exposure to endocrine-disrupting phthalates in preterm infants in neonatal intensive care units (NICU). METHODS:Urine samples (n=151) from 36 preterm infants (<32 weeks of gestation and/or <1500 g of birth weight) were collected on the first 3 days of admission to the NICU and biweekly thereafte...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3027
更新日期:2016-09-01 00:00:00
abstract::Hashitoxicosis is generally differentiated from Graves' hyperthyroidism by its shorter course and absence of ophthalmopathy. In this case report, we describe an adolescent girl who presented with significant clinical findings of hyperthyroidism, a diffuse goiter with homogenously increased uptake in scintigraphy, and ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.1450
更新日期:2014-12-01 00:00:00
abstract:OBJECTIVE:Recently, scientific interest has focused on the association between osteocalcin, which originates from the skeletal system, and glucose metabolism. Although the association between lipid metabolism, adiponectin, and metabolic syndrome is well known, that between obesity, insulin resistance, and osteocalcin h...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.831
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to present weight and height percentiles for Turkish children aged 0-84 months residing in Kayseri, Turkey and to compare these findings with national references and international standards. METHODS:We used the data from the Anthropometry of Turkish Children aged 0-6 years (ATCA-06)...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.452
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:While acute alterations in leptin, insulin, cortisol and growth hormone (GH) levels have been reported in children following weight change interventions, little is known about natural hormonal changes as children grow and how these changes are affected by unprovoked weight status changes. The purpose of this ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v3i1.05
更新日期:2011-01-01 00:00:00
abstract::Alström syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus. Affected individuals have normal birth weight, but growth deceleration starts at about 8-10 years of age. In patients with the dis...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v1i6.278
更新日期:2009-01-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4595
更新日期:2017-09-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.2295
更新日期:2015-12-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.1518
更新日期:2014-12-01 00:00:00
abstract:Objective:The aim of this study was to assess the association between serum uric acid concentration (SUAC) and the parameters of the metabolic syndrome (MetS) and insulin resistance (IR). The secondary aim was to evaluate whether hyperuricemia is associated with renal injury and cardiovascular risk in obese (OB) and ov...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2018.2019.0241
更新日期:2019-09-03 00:00:00
abstract::Permanent neonatal diabetes mellitus (PNDM) is a rare condition presenting before six months of age. Mutations in the genes encoding the ATP-sensitive potassium (KATP) channel are the most common causes. Sulfonylurea (SU) therapy leads to dramatic improvement in diabetes control and quality of life in most patients wh...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.524
更新日期:2012-06-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.1139
更新日期:2013-01-01 00:00:00
abstract::Prevalence of hyperprolactinemia in children with subclinical hypothyroidism (ScH) is not known. This study aimed to determine the occurrence and predictors of hyperprolactinemia in euthyroid children and in children with ScH and overt primary hypothyroidism (OPH). Serum prolactin levels were estimated in consecutive ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4536
更新日期:2017-12-15 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.2017.S002
更新日期:2017-12-30 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 临床试验,杂志文章
doi:10.4274/jcrpe.3557
更新日期:2017-03-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.1454
更新日期:2014-09-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0045
更新日期:2020-06-03 00:00:00
abstract::Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diag...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v3i2.20
更新日期:2011-01-01 00:00:00
abstract::In 2011, the Department of Health (England) will publish revised You're Welcome criteria. This is the first comprehensive attempt to define good quality health services for young people (11-19 years) and provide a self-assessment tool applicable to all adolescent health services. It builds on a growing understanding o...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.v3i2.10
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Insulin glargine provides effective glycemic control when administered at bedtime in adults. OBJECTIVE:This study aims to investigate whether insulin glargine is equally effective if administered in the morning or at bedtime in combination with preprandial anologue insulin. METHODS:Twenty-eight patients th...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.4008/jcrpe.v1i1.10
更新日期:2008-01-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.846
更新日期:2013-01-01 00:00:00
abstract::Congenital hyperinsulinism (CHI) is the most common cause of severe, persistent hypoglycemia in neonates and infants. Current available treatment is subtotal pancreatectomy if the patient does not respond to medical treatment but some of the patients still experience severe hypoglycemia after the surgery. Sirolimus, a...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2020.2020.0033
更新日期:2020-06-02 00:00:00
abstract:OBJECTIVE:To evaluate the use of the 13C-glucose breath test (13C-GBT) for insulin resistance (IR) detection in adolescents through comparison with fasting and post-glucose stimulus surrogates. METHODS:One hundred thirty-three adolescents aged between 10 and 16 years received an oral glucose load of 1.75 g per kg of b...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3260
更新日期:2016-12-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2018.2018.0017
更新日期:2019-02-20 00:00:00