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, increased body mass index, decreased attentional control and a variable proportion of prolactin deficiency, transient partial growth hormone deficiency in childhood and increased growth hormone secretion in adulthood. We present a family in which the proband was diagnosed with central hypothyroidism (CeH) and low serum prolactin. Severe weight gain started at 2 years, up to a BMI of 42.3 at 13.9 years. Testicular enlargement (5-6 ml, 3.8-4.3 SDS) started at 3 years. A pathogenic variant was found in the IGSF1 gene: c.3411_3412del, p.(Tyr1137*). His brother was referred for short stature at age 13 years and was diagnosed with CeH, normal serum prolactin and IGF-1, and disharmonious puberty. In the four male relatives (the proband's brother and three cousins) who carried the variant (one adult), FT4 was below the lower limit of the reference range in two, and just above this limit in the other two cases. Three were overweight or obese, adolescents had disharmonious pubertal development and the adult had profound macroorchidism. In conclusion, male hemizygous carriers of a pathogenic IGSF1 variant can present with FT4 levels above the lower limit of the reference range, and severe early onset obesity or premature testicular growth are part of the phenotypic spectrum.
journal_name
J Clin Res Pediatr Endocrinoljournal_title
Journal of clinical research in pediatric endocrinologyauthors
Ghanny S,Zidell A,Pedro H,Joustra SD,Losekoot M,Wit JM,Aisenberg Jdoi
10.4274/jcrpe.galenos.2020.2020.0125subject
Has Abstractpub_date
2020-10-13 00:00:00eissn
1308-5727issn
1308-5735pub_type
杂志文章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
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 whenev...
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
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::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
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::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: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:Although vitamin D levels are not routinely monitored in pediatric fracture patients, identification of children with a vitamin D deficiency may be clinically relevant because of the potential role of vitamin D in fracture healing. This study aimed to determine the prevalence of vitamin D deficiency in a pedi...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3474
更新日期:2016-12-01 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
abstract:OBJECTIVE:This study aimed (a) to investigate the relationship between the degree of obesity and serum adiponectin, tumor necrosis factor (TNF)-α, leptin, insulin levels and the lipid profile; (b) to clarify the relationship between insulin resistance/glucose tolerance and adipocytokine levels; and (c) to investigate t...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v1i5.233
更新日期:2009-01-01 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::Endocrine disruptors are substances commonly encountered in every setting and condition in the modern world. It is virtually impossible to avoid the contact with these chemical compounds in our daily life. Molecules defined as endocrine disruptors constitute an extremely heterogeneous group and include synthetic chemi...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.569
更新日期:2012-06-01 00:00:00
abstract::Peutz-Jeghers syndrome (PJS) is inherited as an autosomal dominant trait characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large-cell calcifying Sertoli cell tumor (LCCSCT) is a kind of sex cord-stromal tumor which may co-exist with PJS and ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3625
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::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::Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by a temporary isolated elevation of serum alkaline phosphatase activity (ALP), predominantly its bone or liver isoform, in either sick or healthy children under 5 years of age. Return to normal ALP levels usually occurs within four mo...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.680
更新日期:2012-09-01 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: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:OBJECTIVE:In adults, it was shown that obesity and insulin resistance affect low-density lipoprotein (LDL) particle size and small dense (sd) LDL is associated with cardiovascular diseases. In this study, we investigated the effect of obesity and insulin resistance on LDL particle size. METHODS:Twenty-six obese childr...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v2i2.63
更新日期:2010-01-01 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: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: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:To determine the prevalence of obesity and metabolic syndrome (MetS) in children and adolescents with type 1 diabetes (T1D) and to compare the widely accepted and used diagnostic criteria for MetS established by the International Diabetes Federation (IDF), World Health Organisation (WHO) and National Choleste...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0048
更新日期:2020-03-19 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
abstract::3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiograp...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v3i3.30
更新日期:2011-01-01 00:00:00
abstract:Objective:5-Hydroxymethylfurfural (HMF) is formed when sugars are heated in the presence of amino acids. HMF is naturally present in many foods. To investigate the toxic effects of HMF on the reproductive system of peripubertal rats. Methods:In the study, 24 immature female Wistar rat were divided into three groups: c...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0080
更新日期:2020-03-19 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: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: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