hrp0089p3-p349 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Mother and Baby Diagnosed Noonan Syndrome with Dysmorphic Findings

Keskin Mehmet , Aytac Kaplan Emel H , Karaoglan Murat , Karaer Kadri , Keskin Ozlem

Objective: Noonan syndrome; is an autosomal dominant genetic disorder characterized by short stature, low hair line, webbed neck, cubitus valgus, chest wall deformities and congenital heart defects. Here; the patient was admitted to hospital by parents due to undescended testis and finally infant and mother were diagnosed Noonan syndrome.Case: A 14-month-old male patient was admitted to hospital because of bilateral undescended testis. On physical examin...

hrp0089p1-p255 | Thyroid P1 | ESPE2018

Patterns of Thyroglobulin Levels in Infants Referred With High TSH on Newborn Screening, Compared with Iodine-sufficient Healthy Controls

Kallali Wafa , Neumann David , Krylova Katerina , Jones Jeremy H. , Smith Karen , Shaikh Guftar , Donaldson Malcolm

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

hrp0086rfc5.1 | Management of Disorders of Insulin Secretion | ESPE2016

Adiponectin and Leptin in Children with Type 1 Diabetes for 3-5 years with or without Residual β cell Function

Birkebaek Niels H , Sorensen Jesper S , Kristensn Kurt , Pociot Flemming , Frystyk Jan

Background: Studies in adults with type 1 diabetes (T1D) have indicated that adiponectin is negatively associated and leptin positively associated with measures of a residual beta cell function (RBF).Objective and hypotheses: To compare serum adiponectin and leptin levels and their ratio in children with T1D for 3–5 years with and without RBF and in healthy children.Method: We included 342 children (173 females) with T1D, here...

hrp0086p2-p413 | Gonads & DSD P2 | ESPE2016

Two Patients Presenting the Extremes of the Phenotypic Spectrum of 5 alfa Reductase Deficiency: One with at New Mutation

Jensen Karen S , Hvistendahl Gitte M , Kristensen Kurt , Olsen Henning , Vogel Ida , Birkebaek Niels H

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...

hrp0082p1-d2-11 | Adrenals &amp; HP Axis | ESPE2014

Identification of a Novel Large CYP17A1 Deletion by Multiplex Ligation-Dependent Probe Amplification Analysis in Patients with Classic 17-Hydroxylase Deficiency

Guran T , Turkkahraman D , Ivison H , Griffin A , Vijzelaar R , Krone N

Background: Steroid 17-hydroxylase deficiency (17OHD) (OMIM 202110) is a rare form of congenital adrenal hyperplasia caused by loss-of-function mutations in the 17α-hydroxylase (CYP17A1) gene. CYP17A1 is a key enzyme in the biosynthesis of adrenal and gonadal steroid hormones facilitating both 17α-hydroxylase and 17,20-lyase activities. The CYP17A1 gene is located on chromosome 10 and has eight coding exons. Herein, the molecular basis of 17OHD in a...

hrp0082p2-d3-403 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Concomitant Changes in Full Body DXA Values and BMI–SDS During Multidisciplinary Treatment of Childhood Obesity

Nielsen Tenna R H , Fonvig Cilius E , Gerds Thomas A , Lausten-Thomsen Ulrik , Holm Jens-Christian

Background: Childhood obesity and related co-morbidities are increasing world wide and consequently effective treatment interventions are much needed.Objective and hypotheses: The aim was to investigate concomitant changes in body composition in relation to changes in BMI–SDS during The Children’s Obesity Clinics Treatment (TCOCT) program. Hypothesis: reductions in body fat percentage may not be revealed by reductions in BMI–SDS.<p cla...

hrp0082p3-d3-691 | Bone (2) | ESPE2014

Bone Mineral Density and Vitamin D Status in Girls and Adolescents with Turner Syndrome

Baz Ouidad , Semrouni Mourad , Sakher Samia , Griene Lakhdar , Hammomraoui Nadir , Djoudi H

Background: Low bone mineral density (BMD) in patients with Turner syndrome (TS) has been reported in a considerable number of previous studies. Cortical and trabecular bone have been involved. Osteoporosis can be over diagnosed in TS patients with a short stature unless BMD measurements are adjusted for body size. Optimization of bone health in girls with TS requires a healthy active lifestyle, including adequate calcium, vitamin D, and hormonal replacement therapy, according...

hrp0082p3-d3-696 | Bone (2) | ESPE2014

A Korean Boy with Pseudohypoparathyrodism Type Ia Presenting with Congenital Megacolon and Spinal Stenosis: Identification of a Novel GNAS Gene Mutation

Lee J E , Lee S H , Cho S Y , Ki C S , Jin D K

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

hrp0084p3-705 | Diabetes | ESPE2015

Treatment of Dyslipidemia in Children and Adolescents with Diabetes Mellitus Type 1

Borgerink M M H , van Albada M A , Venema G , Bakker-van Waarde W M

Background: Cardiovascular disease (CVD) is the major cause of mortality in diabetes mellitus type 1 (T1DM). Dyslipidemia will increase this risk. Several guidelines have been published, how to treat dyslipidemia in T1DM, yet some studies have shown that the number of patients who are treated according to these guidelines is low.Objective and hypotheses: To investigate the frequency of dyslipidemia in children and adolescents with T1DM and if they are tr...

hrp0094p2-404 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Is inflammation the major driver of polycystic ovary syndrome (PCOS)? A proteomic approach to understanding PCOS in adolescents and the search for novel non-invasive biomarkers

Harriet Gunn/ , Hällqvist Jenny , Doykov Ivan , Steinbeck Katharine , Mills Kevin

Background and Methods: PCOS is common and associated with significant comorbidity. However, its pathogenesis is complex and poorly understood. We have developed new methods for deep phenotyping discovery proteomic profiling of urine, aiming to identify disease mechanisms, drug targets and novel non-invasive biomarkers for PCOS in adolescents. Here, we present the baseline proteomic data from our prospective, longitudinal study (n=40). We undertook proteomic analysis ...