A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.

Abstract:

:Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation. A 5-year-old female patient was referred due to acanthosis nigricans and generalized lanugo. On her physical examination, severe acanthosis nigricans of the neck, axillae, the external genitalia and antecubital regions, generalized lanugo, mildly decreased subcutaneous fat, dysmorphic facial features, and polydactyly on her left hand were noted. Insulin resistance and impaired glucose tolerance were found. Sequence analysis of the INSR in the patient revealed c.3529+5G>A mutation in homozygous state. RMS should be suspected in a patient with characteristic physical features and insulin resistance.

authors

Tuhan H,Ceylaner S,Nalbantoğlu Ö,Acar S,Abacı A,Böber E,Demir K

doi

10.4274/jcrpe.4577

subject

Has Abstract

pub_date

2017-12-15 00:00:00

pages

371-374

issue

4

eissn

1308-5727

issn

1308-5735

journal_volume

9

pub_type

杂志文章
  • Evaluation of Turner Syndrome Knowledge among Physicians and Parents

    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

    authors: Eroğlu Filibeli B,Havare N,Erbak Yılmaz H,Yıldırım JG,Çatlı G,Dündar BN

    更新日期:2020-03-19 00:00:00

  • Normal bone turnover in transient hyperphosphatasemia.

    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

    authors: Kutilek S,Cervickova B,Bebova P,Kmonickova M,Nemec V

    更新日期:2012-09-01 00:00:00

  • Serum paraoxonase/arylesterase activity and oxidative stress status in children with metabolic syndrome.

    abstract:OBJECTIVE:This study aimed to measure paraoxonase/arylesterase activities and to evaluate the total oxidant and antioxidant capacities in obese children and in children with metabolic syndrome (MetS). METHODS:A total of 151 children of comparable ages (13.23±1.96 years, 13.45±1.85 years and 13.95±1.31 years) were enro...

    journal_title:Journal of clinical research in pediatric endocrinology

    pub_type: 杂志文章

    doi:10.4274/Jcrpe.1454

    authors: Eren E,Abuhandan M,Solmaz A,Taşkın A

    更新日期:2014-09-01 00:00:00

  • Resolution of Consumptive Hypothyroidism Secondary to Infantile Hepatic Hemangiomatosis with a Combination of Propranolol and Levothyroxine

    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

    authors: Campbell V,Beckett R,Abid N,Hoey S

    更新日期:2018-07-31 00:00:00

  • The Relationship between Maternal Gestational Impaired Glucose Tolerance and Risk of Large-for-Gestational-Age Infant: A Meta-Analysis of 14 Studies.

    abstract:OBJECTIVE:To explore, by conducting a meta-analysis, whether gestational impaired glucose tolerance (IGT) is an independent predictor of neonatal large for gestational age (LGA) or not. METHODS:Medline, Embase, and Cochrane Library databases were searched to identify published epidemiological studies (cohort and case-...

    journal_title:Journal of clinical research in pediatric endocrinology

    pub_type: 杂志文章,meta分析

    doi:10.4274/jcrpe.2583

    authors: Wang HQ,Lai HL,Li Y,Liu QF,Hu S,Li L

    更新日期:2016-09-01 00:00:00

  • Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

    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

    authors: Sethi A,Foulds N,Ehtisham S,Ahmed SH,Houghton J,Colclough K,Didi M,Flanagan SE,Senniappan S

    更新日期:2020-11-25 00:00:00

  • Neonatal Hypopituitarism: Approaches to Diagnosis and Treatment

    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

    authors: Kurtoğlu S,Özdemir A,Hatipoğlu N

    更新日期:2019-02-20 00:00:00

  • Soluble CD40 Ligand Levels in Children with Newly Diagnosed Graves’ Disease

    abstract:Objective:Soluble CD40 ligand (sCD40L) is elevated in various autoimmune disorders, which may have diagnostic and therapeutic implications. The aims of the current study were to evaluate serum sCD40L concentrations in children with newly diagnosed Graves’ disease (GD) and to correlate its levels with patients’ clinical...

    journal_title:Journal of clinical research in pediatric endocrinology

    pub_type: 杂志文章

    doi:10.4274/jcrpe.galenos.2019.2019.0108

    authors: Metwalley KA,Farghaly HS,Raafat DM,Ismail AM,Saied GM

    更新日期:2020-06-03 00:00:00

  • Metabolic syndrome features presenting in early childhood in Alström syndrome: a case report.

    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

    authors: Pirgon Ö,Atabek ME,Tanju IA

    更新日期:2009-01-01 00:00:00

  • Hyperprolactinemia in Children with Subclinical Hypothyroidism.

    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

    authors: Sharma N,Dutta D,Sharma LK

    更新日期:2017-12-15 00:00:00

  • The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

    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

    authors: Ghanny S,Zidell A,Pedro H,Joustra SD,Losekoot M,Wit JM,Aisenberg J

    更新日期:2020-10-13 00:00:00

  • Nutrition and growth.

    abstract::Nutrition plays a fundamental role in determining the growth of individuals. An appropriate growth progression is considered a harbinger of adequate nutrient intake and good health. On the other hand growth deceleration with or without short stature may indicate inadequate nutrition, even when there is no body weight ...

    journal_title:Journal of clinical research in pediatric endocrinology

    pub_type: 杂志文章,评审

    doi:10.4274/jcrpe.v1i4.39

    authors: Lifshitz F

    更新日期:2009-01-01 00:00:00

  • Contraception for Adolescents

    abstract::Although pregnancy and abortion rates have declined in adolescents, unintended pregnancies remain unacceptably high in this age group. The use of highly effective methods of contraception is one of the pillars of unintended pregnancy prevention and requires a shared decision making process within a rights based framew...

    journal_title:Journal of clinical research in pediatric endocrinology

    pub_type: 杂志文章

    doi:10.4274/jcrpe.galenos.2019.2019.S0003

    authors: Todd N,Black A

    更新日期:2020-02-06 00:00:00

  • A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

    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

    authors: Zhang X,Fan Y,Liu X,Zhu MA,Sun Y,Yan H,He Y,Ye X,Gu X,Yu Y

    更新日期:2019-11-22 00:00:00

  • Fetal and neonatal endocrine disruptors.

    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

    authors: Unüvar T,Büyükgebiz A

    更新日期:2012-06-01 00:00:00

  • Subclinical Hypothyroidism in Danish Lean and Obese Children and Adolescents.

    abstract:OBJECTIVE:Thyroid abnormalities are common in obese children. The aim of the present study was to examine the prevalence of subclinical hypothyroidism (SH) and to determine how circulating thyroid hormone concentrations correlate with anthropometrics in Danish lean and obese children and adolescents. METHODS:In this c...

    journal_title:Journal of clinical research in pediatric endocrinology

    pub_type: 杂志文章

    doi:10.4274/jcrpe.3319

    authors: Dahl M,Ohrt JD,Fonvig CE,Kloppenborg JT,Pedersen O,Hansen T,Holm JC

    更新日期:2017-03-01 00:00:00

  • Vitamin D Deficiency in Pediatric Fracture Patients: Prevalence, Risk Factors, and Vitamin D Supplementation.

    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

    authors: Gorter EA,Oostdijk W,Felius A,Krijnen P,Schipper IB

    更新日期:2016-12-01 00:00:00

  • Hidden Toxicity in Neonatal Intensive Care Units: Phthalate Exposure in Very Low Birth Weight Infants.

    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

    authors: Demirel A,Çoban A,Yıldırım Ş,Doğan C,Sancı R,İnce Z

    更新日期:2016-09-01 00:00:00

  • Treatment with Depot Leuprolide Acetate in Girls with Idiopathic Precocious Puberty: What Parameter should be Used in Deciding on the Initial Dose?

    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

    authors: Vurallı D,Alikaşifoğlu A,İyigün İ,Canoruç D,Ozon A,Gönç N,Kandemir N

    更新日期:2020-03-19 00:00:00

  • Effect of Telehealth System on Glycemic Control in Children and Adolescents with Type 1 Diabetes

    abstract:Objective:A close diabetes team-patient relationship is required for establishing satisfactory metabolic control. The purpose of this study was to investigate the effect of a telehealth system on diabetes control. Methods:The study was carried out between June 2015 and January 2016 at the Gazi University Faculty of Me...

    journal_title:Journal of clinical research in pediatric endocrinology

    pub_type: 杂志文章

    doi:10.4274/jcrpe.galenos.2018.2018.0017

    authors: Döğer E,Bozbulut R,Soysal Acar AŞ,Ercan Ş,Kılınç Uğurlu A,Akbaş ED,Bideci A,Çamurdan O,Cinaz P

    更新日期:2019-02-20 00:00:00

  • Comparison of Treatment Regimens in Management of Severe Hypercalcemia Due to Vitamin D Intoxication in Children

    abstract:Objective:No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment r...

    journal_title:Journal of clinical research in pediatric endocrinology

    pub_type: 杂志文章,多中心研究

    doi:10.4274/jcrpe.galenos.2018.2018.0131

    authors: Demir K,Döneray H,Kara C,Atay Z,Çetinkaya S,Çayır A,Anık A,Eren E,Uçaktürk A,Can Yılmaz G,Törel Ergür A,Kendirci M,Aycan Z,Bereket A,Aydın M,Orbak Z,Özkan B

    更新日期:2019-05-28 00:00:00

  • Sirolimus therapy and follow-up in a patient with severe congenital hyperinsulinism following subtotal pancreatectomy.

    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

    authors: Chen Q,Chen Y,Wang X,Yang H,Zhang Y,Liu X,Yan Y,Wei H

    更新日期:2020-06-02 00:00:00

  • Autoimmune polyglandular syndrome type 3c with ectodermal dysplasia, immune deficiency and hemolytic-uremic syndrome.

    abstract::Autoimmune polyglandular syndrome (APS) is a disorder which is associated with multiple endocrine gland insufficiency and also with non-endocrine manifestations. The pathophysiology of APS is poorly understood, but the hallmark evidence of APS is development of autoantibodies against multiple endocrine and non-endocri...

    journal_title:Journal of clinical research in pediatric endocrinology

    pub_type: 杂志文章

    doi:10.4274/Jcrpe.1128

    authors: Büyükçelik M,Keskin M,Keskin Ö,Bay A,Kılıç BD,Kor Y,Kılınç MA,Balat A

    更新日期:2014-01-01 00:00:00

  • Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years’ Experience and Challenges

    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

    authors: Gürbüz F,Alkan M,Çelik G,Bişgin A,Çekin N,Ünal İ,Topaloğlu AK,Zorludemir Ü,Avcı A,Yüksel B

    更新日期:2020-11-25 00:00:00

  • Weight for length/height percentiles in infants and young children in Kayseri/Turkey.

    abstract:OBJECTIVE:To produce weight for length/height (WLH) percentiles to be used for the screening of growth and assessment of failure to thrive in infancy and early childhood. METHODS:The data (2009-2010) of the Anthropometry of Turkish Children aged 0-6 years (ATCA-06) study were used. A cross-sectional study was designed...

    journal_title:Journal of clinical research in pediatric endocrinology

    pub_type: 杂志文章

    doi:10.4274/Jcrpe.1139

    authors: Mazıcıoğlu MM,Demirtaş T,Çcek B,Oztürk A,Kurtoğlu S,Üstünbaş HB

    更新日期:2013-01-01 00:00:00

  • The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism.

    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

    authors: Cangül H,Demir K,Babayiğit HÖ,Abacı A,Böber E

    更新日期:2015-09-01 00:00:00

  • Monogenic diabetes secondary to congenital lipodystrophy in a 14-year-old Yemeni girl.

    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

    authors: Roth T,Nair S,Kumar A

    更新日期:2010-01-01 00:00:00

  • Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency.

    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

    authors: Arman A,Dündar BN,Çetinkaya E,Erzaim N,Büyükgebiz A

    更新日期:2014-12-01 00:00:00

  • Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children.

    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

    authors: Güran T

    更新日期:2017-12-30 00:00:00

  • Critical points in the management of pseudohypoaldosteronism type 1.

    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

    authors: Güran T,Değirmenci S,Bulut İK,Say A,Riepe FG,Güran Ö

    更新日期:2011-01-01 00:00:00