Abstract:
:Primary adrenal insufficiency (PAI) is a heterogeneous group of disorders characterized by an impaired production of cortisol and other steroid hormones by the adrenal cortex. Most of the causes of PAI in childhood are inherited and monogenic in origin and are associated with significant morbidity and mortality whenever the diagnosis and treatment is delayed. Therefore, early and accurate diagnosis would allow appropriate management for the patients and genetic counselling for the family. Congenital adrenal hyperplasia accounts for most cases of PAI in childhood, followed by abnormalities in the development of the adrenal gland, resistance to adrenocorticotropin hormone action and adrenal destruction. In recent years, the use of genome-wide, next-generation sequencing approaches opened new avenues for identifying novel genetic causes in the PAI spectrum. Understanding the genetic basis of adrenal disorders is key to develop innovative therapies for patients with PAI. The promising progress made in congenital adrenal hyperplasia treatment brings new perspectives for personalized treatment in children with PAI. The aim of this review is to characterize recent advances in the genetics and management of PAI in children.
journal_name
J Clin Res Pediatr Endocrinoljournal_title
Journal of clinical research in pediatric endocrinologyauthors
Güran Tdoi
10.4274/jcrpe.2017.S002subject
Has Abstractpub_date
2017-12-30 00:00:00pages
9-22issue
Suppl 2eissn
1308-5727issn
1308-5735journal_volume
9pub_type
杂志文章,评审abstract:OBJECTIVE:Individuals living at high altitudes are reported to have lower stature and also a smaller chest size in relation to their stature. Altitude-related hypobaric hypoxia is considered to be the major cause of these alterations in growth, but adverse socioeconomic and/or other environmental conditions may also ha...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.559
更新日期:2012-03-01 00:00:00
abstract::Congenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause for dyshormonogenesis. So far, more than 60 mutations in the TPO gene have been described, resultin...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.2017
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE:Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defe...
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::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
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::Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated with intellectual disability (ID), developmental delay (DD), obesity, epilepsy, typical facial features and anomalies of fingers and toes. Endocrinological phenotypes and outcome of treatment...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type:
doi:10.4274/jcrpe.galenos.2019.2018.0220
更新日期:2019-11-22 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::Mutations in the insulin receptor (INSR) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in adults and children (more than 3 years of age) but not in the neonatal period. Family 1: ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0106
更新日期:2020-11-25 00:00:00
abstract:OBJECTIVE:Obesity is known to affect thyroid functions. Recently, waist-height ratio (WHtR) has been considered as a useful marker of subclinical hypothyroidism in obese cases, but its relation with thyroid autoimmunity still remains unclear. We evaluated the effect of body fat mass, WHtR, and metabolic parameters on t...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2020.2020.0170
更新日期:2020-10-02 00:00:00
abstract:OBJECTIVE:Papillary thyroid cancer (PTC) may behave differently in prepubertal children as compared to pubertal children and adults. BRAF gene activating mutations may associate with PTC by creating aberrant activation. We aimed to evaluate the clinicopathological characteristics of PTC patients with emphasis on the pu...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3873
更新日期:2017-09-01 00:00:00
abstract:Objective:Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods:Here we present nationwide initial and follow-up data on HR. Results:From...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0098
更新日期:2020-06-03 00:00:00
abstract:OBJECTIVE:To find out the diagnostic role of kisspeptin and neurokinin B in idiopathic central precocious puberty (ICPP) and premature thelarche (PT). METHODS:The girls who presented with early breast development before the age of 8 years were evaluated. Patients with intracranial pathologies were excluded. Basal and ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3817
更新日期:2017-06-01 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:OBJECTIVE:Bi-allelic mutations in wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized with non-autoimmune diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), sensorineural deafness (SND), urinary tract abnormalities, and neuropsychiatric disorders. We evaluated patients presen...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2020.2020.0152
更新日期:2020-09-17 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::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 o...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0101
更新日期:2020-09-02 00:00:00
abstract:OBJECTIVE:To estimate the relationship between cord blood bisphenol A (BPA) levels and anogenital measurements in healthy newborns. METHODS:Pregnancy and birth history, together with body mass and length data, anogenital measurements, penile measurements and cord blood samples were obtained from healthy newborns. Cord...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4817
更新日期:2018-03-01 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:Iodine deficiency and excess are the most important factors that affect screening and recall rates of congenital hypothyroidism. The purpose of this study was to investigate the urinary iodine status in newborns and their mothers and its effects on neonatal thyroid-stimulating hormone (TSH) levels in a mildly...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.997
更新日期:2013-01-01 00:00:00
abstract::Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for many hematological disorders, primary immunodeficiencies, and metabolic disorders. Thyroid dysfunction is one of the frequently seen complications of HSCT. However, hyperthyroidism due to Graves' disease, autoimmune thyroiditis, and thyr...
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
abstract:OBJECTIVE:Stosstherapy has been used since early 19th century for treating nutritional rickets. However, there are no clear cut guidelines for the biochemical monitoring of this treatment. Repeated blood tests at short intervals increase the cost of therapy and noncompliance. METHODS:A prospective study was conducted ...
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
abstract::Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-like protein 1 can result in CCH and multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone r...
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
abstract:Objective:Doses of gonadotropin releasing hormone (GnRH) analogues used to treat idiopathic central precocious puberty (iCPP) vary among clinicians. Study aims were to evaluate the efficacy of a monthly 3.75 mg dose of leuprolide acetate (LA) to suppress the hypothalamo-pituitary-gonadal (HPG) axis in girls with iCPP a...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0060
更新日期:2020-03-19 00:00:00
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:Objective:Turner syndrome (TS) is one of the most common chromosomal abnormalities and an important cause of short stature and infertility due to ovarian failure in females. The aim was to evaluate the knowledge of TS among physicians and parents of children with TS and to enhance awareness about this subject. Methods...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0041
更新日期:2020-03-19 00:00:00
abstract:Objective:Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals. Methods:The purpose of this study was to investigate the results of gender assignment recommendations in children with DSD in our clinic from 1999 th...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2020.2020.0009
更新日期:2020-11-25 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
abstract::Infantile hepatic hemangiomas (IHH), particularly of the diffuse subtype can, in severe cases, be associated with hepatic and cardiac failure, compartment syndrome and consumptive hypothyroidism. Early recognition and treatment of these pathologies is paramount in order to minimise the risk of long-term sequelae. We r...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4865
更新日期:2018-07-31 00:00:00
abstract:OBJECTIVE:Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS pati...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,多中心研究
doi:10.4274/jcrpe.3013
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVE:To explore the effects of maternal high-fat (HF) diet-induced obesity on fetal growth and the expression of placental nutrient transporters. METHODS:Maternal obesity was established in rats by 8 weeks of pre-pregnancy fed HF diet, while rats in the control group were fed normal (CON) diet. Diet-induced obesi...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4510
更新日期:2017-12-15 00:00:00