当前位置： SCI文献检索 > Hormone Research in Paediatrics期刊下所有文献 > Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.

Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.

Abstract：

BACKGROUND:GATA6 mutations are the most frequent cause of pancreatic agenesis and diabetes in human sporadic cases. In families, dominantly inherited mutations show a variable phenotype also in terms of endocrine and exocrine pancreatic disease. We report two novel GATA6 mutations in an independent cohort of 8 children with pancreas aplasia or hypoplasia and diabetes. METHODS:We sequenced GATA6 in 8 children with diabetes and inborn pancreas abnormalities, i.e. hypoplasia or aplasia in which other known candidate genes causing monogenic diabetes and pancreatic defects had been excluded. RESULTS:We found two novel heterozygous GATA6 mutations (c.951_954dup and c.754_904del) in 2 patients with sporadic pancreas hypoplasia, diabetes and severe cardiac defects (common truncus arteriosus and tetralogy of Fallot), but not in the remaining 6 patients. GATA6 mutations in carriers exhibited hypoplastic pancreas with absent head in 1 patient and with increased echogenicity and decreasing exocrine function in the other patient. Additionally, hepatobiliary malformations and brain atrophy were found in 1 patient. CONCLUSION:Our 2 cases with novel GATA6 mutations add more phenotype characteristics of GATA6 haploinsufficiency. In agreement with an increasing number of published cases, the wide phenotypic spectrum of GATA6 diabetes syndrome should draw the attention of both pediatric endocrinologists and geneticists.

journal_name

Horm Res Paediatr

journal_title

Hormone research in paediatrics

authors

Gong M,Simaite D,Kühnen P,Heldmann M,Spagnoli F,Blankenstein O,Hübner N,Hussain K,Raile K

doi

10.1159/000348844

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

250-6

issue

4

eissn

1663-2818

issn

1663-2826

pii

000348844

journal_volume

79

pub_type

杂志文章

相关文献

Hormone Research in Paediatrics文献大全
  • Influence of fetal growth velocity and smallness at birth on adrenal function in adolescence.

    abstract：:The hypothalamic-pituitary-adrenal axis is susceptible to programming during fetal development and may be linked to risk of disease later in life. In a former prospective study the cohort was divided into those born appropriate for gestational age (AGA) or small for gestational age (SGA; birth weight <10 percentile). ...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000315656

    authors： Beck Jensen R,Vielwerth S,Larsen T,Hilsted L,Cohen A,Hougaard DM,Jensen LT,Greisen G,Juul A

    更新日期：2011-01-01 00:00:00

  • A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency.

    abstract：BACKGROUND:3β-hydroxysteroid dehydrogenase (3βHSD) type 2 (encoded by HSD3B2) is expressed in the adrenals and gonads. HSD3B2 mutations cause the rare form of congenital adrenal hyperplasia '3βHSD deficiency'. In its classic form, affected individuals have salt wasting early in infancy and may have ambiguous genitalia ...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000336004

    authors： Jeandron DD,Sahakitrungruang T

    更新日期：2012-01-01 00:00:00

  • Elevated head circumference-to-height ratio is an early and frequent feature in children with neurofibromatosis type 1.

    abstract：BACKGROUND/AIMS:Children with neurofibromatosis type 1 (NF1) tend to be macrocephalic and short. Our aim was to define the incidence and diagnostic accuracy of elevated head circumference-to-height ratio (HCHR) in children with NF1 and to assess if elevated HCHR would facilitate early diagnosis of NF1. METHODS:Retrosp...

    journal_title：Hormone research in paediatrics

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1159/000347119

    authors： Karvonen M,Saari A,Hannila ML,Lönnqvist T,Dunkel L,Sankilampi U

    更新日期：2013-01-01 00:00:00

  • Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

    abstract：BACKGROUND:Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. OBJECTIVES:The aim of this study was to investigate the effects of poor...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,多中心研究

    doi：10.1159/000351022

    authors： Melis D,Pivonello R,Cozzolino M,Della Casa R,Balivo F,Del Puente A,Dionisi-Vici C,Cotugno G,Zuppaldi C,Rigoldi M,Parini R,Colao A,Andria G,Parenti G

    更新日期：2014-01-01 00:00:00

  • Fasting hypoglycaemia and postprandial hyperglycaemia as a prodrome of type 1 diabetes mellitus.

    abstract：:The pathophysiology of type 1 diabetes mellitus (DM) involves the selective autoimmune destruction of the pancreatic beta-cells [Pihoker et al.: Diabetes 2005;54(suppl 2):S52-S61]. The onset of type 1 DM is characterised by hyperglycaemia. Islet cell antibody (ICA), anti-insulin, anti-glutamic acid decarboxylase and t...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000337254

    authors： Rafeullah N,Cackett N,Hussain K

    更新日期：2012-01-01 00:00:00

  • Adult height and epigenotype in children with Silver-Russell syndrome treated with GH.

    abstract：AIMS:To compare adult heights of GH-treated and GH-untreated patients with Silver-Russell syndrome (SRS) who were epigenotyped. METHODS:This was a nonrandomized retrospective study with matched controls at a single center. Molecular analysis of 32 out of 37 GH-treated patients (16 females) revealed IGF2-H19 epimutatio...

    journal_title：Hormone research in paediatrics

    pub_type： 临床试验,杂志文章

    doi：10.1159/000354658

    authors： Binder G,Liebl M,Woelfle J,Eggermann T,Blumenstock G,Schweizer R

    更新日期：2013-01-01 00:00:00

  • A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome.

    abstract：:Infantile Cushing's syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and precocious puberty or other endocrine hyperfunct...

    journal_title：Hormone research in paediatrics

    pub_type：

    doi：10.1159/000501169

    authors： Dejkhamron P,Ittiwut C,TangNgam H,Sunkonkit K,Natesirinilkul R,Suphapeetiporn K,Shotelersuk V

    更新日期：2019-01-01 00:00:00

  • Adrenocortical hormonal activity in 20-year-old subjects born small or appropriate for gestational age.

    abstract：BACKGROUND:Altered adrenocortical activity is one suggested mechanism relating small birth size with the metabolic syndrome in adulthood. Adrenal androgen concentrations are higher in children born small (SGA) than appropriate for gestational age (AGA). AIM:To compare adrenocortical hormonal activity between 20-year-o...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000338344

    authors： Todorova B,Salonen M,Jääskeläinen J,Tapio A,Jääskeläinen T,Palvimo J,Turpeinen U,Hämäläinen E,Räsänen M,Tenhola S,Voutilainen R

    更新日期：2012-01-01 00:00:00

  • Thyroid Ultrasound: More Sensitive than Radioactive Iodine Imaging in Detecting Recurrence of Papillary Thyroid Cancer in Two Pediatric Patients.

    abstract：BACKGROUND:Papillary thyroid cancer (PTC) is an uncommon pediatric disease with an excellent prognosis. In follow-up surveillance, neck ultrasound (US), basal and thyroid-stimulating hormone-stimulated serum thyroglobulin (Tg) levels, and diagnostic whole-body radioactive iodine scans (DxWBS) have been traditionally us...

    journal_title：Hormone research in paediatrics

    pub_type：

    doi：10.1159/000487436

    authors： Wise-Oringer BK,Goldis M,Regelmann MO,Klein M,Machac J,Kotlus Rosenberg H,Rapaport R

    更新日期：2018-01-01 00:00:00

  • Thyroid function patterns at Hashimoto's thyroiditis presentation in childhood and adolescence are mainly conditioned by patients' age.

    abstract：BACKGROUND:There are few studies investigating the factors which may affect different biochemical presentations of Hashimoto's thyroiditis (HT) and these are frequently based on limited pediatric populations. AIMS:(1) To assess the frequency of thyroid function patterns at HT diagnosis in 608 children and adolescents,...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,多中心研究

    doi：10.1159/000343815

    authors： Wasniewska M,Corrias A,Salerno M,Mussa A,Capalbo D,Messina MF,Aversa T,Bombaci S,De Luca F,Valenzise M

    更新日期：2012-01-01 00:00:00

  • Continuous Glucose Monitoring Systems: Are They Useful for Evaluating Glycemic Control in Children with Hyperinsulinism?

    abstract：BACKGROUND:Effective treatment and close monitoring in children with congenital hyperinsulinism (HI) are important to prevent hypoglycemic-associated brain damage. The current monitoring approach involves measuring plasma glucose intermittently, but this does not provide a comprehensive assessment of glycemic control a...

    journal_title：Hormone research in paediatrics

    pub_type： 临床试验,杂志文章

    doi：10.1159/000506230

    authors： Rayannavar A,Elci OU,Mitteer L,De León DD

    更新日期：2019-01-01 00:00:00

  • Thyroid Sequelae of Pediatric Cancer Therapy.

    abstract：:The hypothalamic-pituitary-thyroid axis is a common site of unintended, acquired disease either during or after the treatment of cancer. Children treated with external radiation therapy are at the highest risk for developing a thyroid-related late effect, but thyroid dysfunction and second primary thyroid neoplasms ca...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,评审

    doi：10.1159/000495040

    authors： Waguespack SG

    更新日期：2019-01-01 00:00:00

  • Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty.

    abstract：BACKGROUND:Mutations in the imprinted gene MKRN3 have been described as a common genetic cause of idiopathic central precocious puberty (CPP), in particular in familial cases. However, the exact prevalence of mutations is unknown. Single nucleotide polymorphisms in 2 other imprinted genes, DLK1 and KCNK9, have been ass...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000477441

    authors： Grandone A,Capristo C,Cirillo G,Sasso M,Umano GR,Mariani M,Miraglia Del Giudice E,Perrone L

    更新日期：2017-01-01 00:00:00

  • Pubertal growth and serum testosterone and estradiol levels in boys.

    abstract：BACKGROUND/AIMS:To study serum testosterone and estradiol in healthy boys in relation to growth during puberty up to peak height velocity (PHV). METHODS:Growth velocity was analyzed through testosterone (n = 41) and 17β-estradiol (n = 37) 24-hour profiles in a dose-response model. Participants were 26 healthy boys adm...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000353761

    authors： Albin AK,Norjavaara E

    更新日期：2013-01-01 00:00:00

  • Effects of Recombinant Human Growth Hormone in Children with Crohn's Disease on the Muscle-Bone Unit: A Preliminary Study.

    abstract：BACKGROUND/AIMS:There is limited information on the impact of recombinant human growth hormone (rhGH) on the muscle-bone unit in children with Crohn's disease (CD). In this pilot study, we report on the effects of rhGH on bone formation, dual-energy X-ray absorptiometry (DXA) total body (TB) bone mineral density adjust...

    journal_title：Hormone research in paediatrics

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1159/000492398

    authors： Altowati MA,Shepherd S,McGrogan P,Russell RK,Ahmed SF,Wong SC

    更新日期：2018-01-01 00:00:00

  • Insulin-like growth factor I: pros and cons of a bioassay.

    abstract：BACKGROUND:Insulin-like growth factor I (IGF-I) immunoassays are primarily used to estimate IGF-I status. Recently an IGF-I-specific kinase receptor activation assay (KIRA) was developed as an alternative method for measuring IGF-I bioactivity. When compared with IGF-I immunoassays, the IGF-I KIRA has the theoretical a...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000329191

    authors： Janssen JA

    更新日期：2011-01-01 00:00:00

  • Consequences of stopping and restarting leptin in an adolescent with lipodystrophy.

    abstract：BACKGROUND/AIMS:Lipodystrophy encompasses a group of rare disorders characterized by deficiency of adipose tissue resulting in hypoleptinemia, and metabolic abnormalities including insulin resistance, diabetes, dyslipidemia, and nonalcoholic steatohepatitis. Leptin replacement effectively ameliorates these metabolic de...

    journal_title：Hormone research in paediatrics

    pub_type： 临床试验,杂志文章

    doi：10.1159/000341398

    authors： Kamran F,Rother KI,Cochran E,Safar Zadeh E,Gorden P,Brown RJ

    更新日期：2012-01-01 00:00:00

  • Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1.

    abstract：BACKGROUND/AIMS:Hypothalamic hamartomas are the most common identifiable cause of central precocious puberty (CPP). Hamartoma characteristics proposed to be associated with CPP include specific anatomic features and expression of molecules such as gonadotropin-releasing hormone (GnRH), transforming growth factor alpha ...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000308162

    authors： Chan YM,Fenoglio-Simeone KA,Paraschos S,Muhammad L,Troester MM,Ng YT,Johnsonbaugh RE,Coons SW,Prenger EC,Kerrigan JF Jr,Seminara SB

    更新日期：2010-01-01 00:00:00

  • Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.

    abstract：BACKGROUND AND OBJECTIVE:Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously in Israel. Our aim was to study the clinical and genetic characteristics...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000323441

    authors： Rachmiel M,Bistritzer T,Hershkoviz E,Khahil A,Epstein O,Parvari R

    更新日期：2011-01-01 00:00:00

  • Techniques in pediatric surgery: congenital hyperinsulinism.

    abstract：:For surgery in congenital hyperinsulinism (CHI), a distinct strategy and technique is required for focal, diffuse and atypical types. In focal CHI, a confined, localized and parenchyma-sparing resection which is guided by the PET-CT is always indicated in order to cure the patient. In diffuse CHI, however, the results...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000321902

    authors： Barthlen W,Mohnike W,Mohnike K

    更新日期：2010-01-01 00:00:00

  • Combined therapy with insulin and growth hormone in 17 patients with type-1 diabetes and growth disorders.

    abstract：BACKGROUND/AIM:Combined growth hormone (GH) and insulin therapy is rarely prescribed by pediatric endocrinologists. We investigated the attitude of Italian physicians to prescribing that therapy in the case of short stature and type-1 diabetes (T1DM). METHODS:A questionnaire was sent and if a patient was identified, d...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,多中心研究

    doi：10.1159/000360856

    authors： Zucchini S,Iafusco D,Vannelli S,Rabbone I,Salzano G,Pozzobon G,Maghnie M,Cherubini V,Bizzarri C,Bonfanti R,D'Annunzio G,Lenzi L,Maggio MC,Marigliano M,Scaramuzza A,Tumini S,Iughetti L

    更新日期：2014-01-01 00:00:00

  • The Diagnosis of Polycystic Ovary Syndrome during Adolescence.

    abstract：BACKGROUND/AIMS:The diagnostic criteria for polycystic ovary syndrome (PCOS) in adolescence are controversial, primarily because the diagnostic pathological features used in adult women may be normal pubertal physiological events. Hence, international pediatric and adolescent specialty societies have defined criteria t...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000375530

    authors： Witchel SF,Oberfield S,Rosenfield RL,Codner E,Bonny A,Ibáñez L,Pena A,Horikawa R,Gomez-Lobo V,Joel D,Tfayli H,Arslanian S,Dabadghao P,Garcia Rudaz C,Lee PA

    更新日期：2015-04-01 00:00:00

  • Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.

    abstract：INTRODUCTION:Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative stress, demonstrated in patients' fibroblasts in vitro, may be a central disease mechanis...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000465520

    authors： Fragoso MCBV,Albuquerque EVA,Cardoso ALA,da Rosa PWL,de Paulo RB,Schimizu MHM,Seguro AC,Passarelli M,Koehler K,Huebner A,Almeida MQ,Latronico AC,Arnhold IJP,Mendonca BB

    更新日期：2017-01-01 00:00:00

  • Pseudoisodicentric Xp chromosome [46,X,psu idic(X)(q21.1)] and its effect on growth and pubertal development.

    abstract：BACKGROUND:Most isodicentric (Xp) and (Xq) chromosomes occur as a mosaic with a 45,X cell line. Patients with a nonmosaic 46,X,idic(Xq) are rare. CASES:The first girl was referred at 13 years with a short stature and pubertal delay (M1, P2, A1). Her height was 141.6 cm (-3.1 SDS). Ovarian failure was present. The seco...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000357141

    authors： van der Kamp HJ,Kant SG,Ruivenkamp CA,Gijsbers AC,Haring D,Oostdijk W

    更新日期：2014-01-01 00:00:00

  • The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.

    abstract：BACKGROUND:The steroidogenic acute regulatory protein (StAR) is essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause lipoid congenital adrenal hyperplasia. OBJECTIVE AND METHODS:To identify causative mutations in a patient presenting with adrenal failure ...

    journal_title：Hormone research in paediatrics

    pub_type： 临床试验,杂志文章

    doi：10.1159/000354086

    authors： Yüksel B,Kulle AE,Gürbüz F,Welzel M,Kotan D,Mengen E,Holterhus PM,Topaloğlu AK,Grötzinger J,Riepe FG

    更新日期：2013-01-01 00:00:00

  • Serum fibroblast growth factor 23 is a useful marker to distinguish vitamin D-deficient rickets from hypophosphatemic rickets.

    abstract：BACKGROUND/AIMS:Vitamin D-deficient rickets (DR) has recently re-emerged among developed countries. Vitamin D deficiency can influence biochemical results of patients with fibroblast growth factor 23 (FGF23)-related hereditary hypophosphatemic rickets (HR), making differential diagnosis difficult. In the present study ...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000357142

    authors： Kubota T,Kitaoka T,Miura K,Fujiwara M,Ohata Y,Miyoshi Y,Yamamoto K,Takeyari S,Yamamoto T,Namba N,Ozono K

    更新日期：2014-01-01 00:00:00

  • Monogenic Disorders of Adrenal Steroidogenesis.

    abstract：:Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches of the steroidogenic machinery involved in the production of mineralocorticoids, glucocorticoids, and androgens. This mini review describes t...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,评审

    doi：10.1159/000488034

    authors： Baranowski ES,Arlt W,Idkowiak J

    更新日期：2018-01-01 00:00:00

  • Water Balance and 'Salt Wasting' in the First Year of Life: The Role of Aldosterone-Signaling Defects.

    abstract：:In newborns and infants, dehydration and salt wasting represent a relatively common cause of admission to hospital and may result in life-threatening complications. Kidneys are responsible for electrolyte homoeostasis, but neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron, leadi...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000449057

    authors： Bizzarri C,Pedicelli S,Cappa M,Cianfarani S

    更新日期：2016-01-01 00:00:00

  • Influence of socioeconomic status and body mass index on bone age.

    abstract：BACKGROUND/AIMS:To evaluate the relationship of socioeconomic status (SES) and body mass index (BMI) with skeletal maturation in children from Marrakech (Morocco). METHODS:SES, BMI z-score and bone age (BA) were measured in a cohort of 623 children (280 boys and 343 girls, chronological age (CA) ranged from 6.6 to 18....

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000313371

    authors： Chaumoitre K,Lamtali S,Baali A,Saliba-Serre B,Lahmam A,Aboussad A,Boëtsch G,Panuel M

    更新日期：2010-01-01 00:00:00

  • Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.

    abstract：INTRODUCTION:Testicular adrenal rest tumors (TART) are a known consequence for males with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. TART are associated with potential infertility in adults. However, little is known about TART in very young males with CAH. OBJECTIVE:We assessed th...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000504135

    authors： Kim MS,Koppin CM,Mohan P,Goodarzian F,Ross HM,Geffner ME,De Filippo R,Kokorowski P

    更新日期：2019-01-01 00:00:00