ESPE Abstracts

ESPE Abstracts

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Page 11 of about 138 results

hrp0095p2-23 | Adrenals and HPA Axis | ESPE2022

Primary pigmented nodular adrenocortical disease in a young boy associated with a rare somatic mutation of the PRKACA: case report and literature review

Xu Yu-ying , Li Yan-hong , Chen Qiu-li , Ma Hua-mei , Zhang Jun , Guo Song

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...
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hrp0092rfc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

CHD7 Mutations in Patients with Anosmic or Normosmic Idiopathic Hypogonadotropic Hypogonadism

Damla Kotan Leman , Anik Ahmet , Mengen Eda , Turan Ihsan , Akkus Gamze , Ozsu Elif , Bereket Abdullah , Nuri Ozbek Mehmet , Yuksel Bilgin , Kemal Topaloglu Ali

Background: Mutations in CHD7 cause a rare multi-organ system disorder, CHARGE syndrome (CS). Genital hypoplasia has been described in 60-80% of reported cases because of idiopathic hypogonadotropic hypogonadism (IHH), which is a result of inadequate GnRH secretion in the hypothalamus. Correspondingly, IHH and anosmia are expected in cases with CHD7 mutation. However, due to the phenotypic spectrum of CHD7, mutations have also be...
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hrp0089fc1.4 | Adrenals & HPA Axis | ESPE2018

Whole Exome Sequencing in Patients with Primary Generalized Glucocorticoid Resistance Identifies a Novel TRIM28 Gene Mutation (p.R230X)

Sertedaki Amalia , Marinakis Nikos , Nicolaides Nicolas C. , Crousos George , Charmandari Evangelia

Introduction: Primary Generalized Glucocorticoid Resistance or Chrousos syndrome (CS) is a rare sporadic or familial disorder characterized by generalized, partial tissue insensitivity to glucocorticoids. Mutations of the NR3C1 gene, which encodes the human glucocorticoid receptor, have been identified in many but not all patients with CS.Objective: To identify novel genes related to CS in patients without NR3C1 gene mutations.<p cl...
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hrp0082p3-d3-863 | Growth (4) | ESPE2014

Costello Syndrome: What About GH Treatment?

Manolachie Adina , Rusu Cristina , Fadur Alina , Bodescu Ioana , Braha Elena , Mogos Voichita , Vulpoi Carmen

Background: Costello syndrome (CS) is a rare autosomal dominant genetic disease, first described in 1971, part of neuro-cardio-facio-cutaneous syndrome (with RAS pathway genes mutations of MAPKinaza-RASopathies), characterized by short stature, delayed mental development, joint hiperlaxity, papillomas, congenital heart defects and increased risk to develop benign or malignant solid tumors.Case: We present the case of a teenaged girl (15 years 7 months), ...
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hrp0082p3-d2-894 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Relationship of Birth Gestational Age with IGF Binding Protein 3 Beyond Influences of Gender, Small-For-Gestational-Age Status, Caesarean Section, Caloric Intake, Parenteral Nutirtion, and Predominant Breast Milk Feeding in the Not-Life Threatened Newborn: Relevance of Not-Brain-Related Birth Body Weight

Terzi Cesare , Blum Werner F , Zani Sergio , Riani Marco , Tridenti Gabriele , Cerioli Andrea , Garavelli Lidia , Bernasconi Sergio , Virdis Raffaele , Banchini Giacomo

Background/objective and hypotheses: Not-brain-related birth body weight (NBBW) relevance to known relationships of birth gestational age (GA) with blood serum IGF binding protein 3 (IB3) was studied in the not-life threatened newborn (NWB).Method: SEX, GA (unit:complete week), postnatal age (PNA; unit:day), birth body weight (BW; unit:g), birth head circumference (HC; unit:cm), BW<10th centile for GA (SGA), caesarean section (CS), predominant oral/e...
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hrp0095mte1 | Pediatric Cushing Disease | ESPE2022

Pediatric Cushing disease

By far, the most common type of CS is due to exogenous causes, i.e. medication-induced CS. Endogenous causes are rare by they are all associated with one form of another of a tumor. We call Cushing Disease (CD) what is caused by pituitary adenomas only. It is common for children with CD to show an increase in rate of weight gain accompanied by a decrease in growth rate (linear height) due to decreased growth hormone secretion. This is often easily detected in growth charts of ...
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hrp0089p1-p015 | Adrenals and HPA Axis P1 | ESPE2018

New Insights into Low Dose Dexamethasone Suppression Test in Paediatric Cushing’s Syndrome

Wilkinson Ingrid C E , Martin Lee , Grossman Ashley B , Monson John P , Akker Scott , Savage Martin O , Drake William M , Storr Helen L

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...
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hrp0082p3-d2-895 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Relationship of Birth Gestational Age with the Ratio between IGF2 and IGF Binding Protein 3 in Blood Serum Beyond Influences of Gender, Small-For-Gestational-Age Status, Caesarean Section, Caloric Intake, and Predominant Breast Milk Feeding in the Not-Life-Threatened Newborn: Relevance of Parenteral Nutrition

Terzi Cesare , Virdis Raffaele , Blum Werner F , Zani Sergio , Riani Marco , Tridenti Gabriele , Cerioli Andrea , Chesi Elena , Bernasconi Sergio , Banchini Giacomo

Background/objective and hypotheses: Parenteral nutrition (KIVD) relevance to known birth gestational age (GA) relations to the blood serum IG2/blood serum IGF binding protein 3 (IB3) ratio (IG2 through chronologically corresponding IB3, IG2/IB3) was studied in the not-life-threatened newborn (NWB).Method: SEX, GA (unit, complete week), postnatal age (PNA; unit, day), birth body weight (BW; unit, g), birth head circumference (HC; unit, cm), GA≤36 (...
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hrp0092p2-196 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Klinefelter Syndrome Associated with Short Stature Due to Iatrogenic Cushing

Machado Pinto Renata , Barbosa Julio , Mendes Arthur , Steinmetz Lucas , Cunha Damiana , Divino Da Cruz Aparecido

Introduction: Klinefelter syndrome (KS) is a form of aneuploidy resulting from 2 or more X chromosomes in a male. The most common karyotype is 47, XXY. KS affects physical and intellectual development to varying degrees, commonly causing hypo-development of secondary sexual characters and high stature.Case Report: JLV, male, 3 year 1 month age, the first child of a young non-consanguineous couple, was referred to the ped...
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hrp0086p2-p64 | Adrenal P2 | ESPE2016

Cushing Syndrome Due to Adrenal Adenoma in an Adolescent Patient and Successful Treatment with Laparoscopic Surgery

Hacihamdioglu Bulent , Ozgurhan Gamze , Guney Asuman , Haluk Guvenc Bekir

Cushing syndrome (CS) is a rare disease in children associated with weight gain and stunting of their linear growth. In older children, pituitary adenomas are a more common cause of CS. The clinical presentation of CS varies in children such as truncal obesity, striae, facial plethora, hypertension, and PKOS-like (polycystic ovary syndrome) feature. Here in we report an adolescent presented with obesity, short stature and late puberty but without metabolic syndrome or hirsutis...
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