hrp0084p3-610 | Adrenals | ESPE2015

Development of a Patient with Severe Pseudohypoaldosteronism due to Mutation in the α Subunit of ENaC

Lankes Erwin , Krude Heiko , Schnabel Dirk

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disease which is characterised by hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of aldosterone and renin. Aldosterone resistance is caused either by a mutation of the mineralocorticoid receptor gene or the epithelial sodium channel (ENaC). First causes autosomal dominant PHA1, also called renal form, second is responsible for the more severe and systemic form of PHA1 and is inherited in an autosom...

hrp0082p2-d1-368 | Fat Metabolism & Obesity | ESPE2014

MAINTAIN: an Intervention Study of Weight Regain After Weight Loss in Adolescents and Children Reveals an Only Minor Role of Leptin in Weight Regain

Wiegand Susanna , Bau Anne-Madeleine , Ernert Andrea , Krude Heiko

Background: Lifestyle interventions show a long lasting weight reduction in only 10–20% of obese children and adolescents. Leptin as one major player within the central regulation of food intake and energy expenditure is most likely to mediate the endogenous drive for weight regain.Objective and hypotheses: To estimate weight regain after weight loss and the role of leptin in regain.Method: We included 153 obese children/adole...

hrp0082p2-d1-589 | Thyroid | ESPE2014

No Difference in Cognitive Development of Young Adults and Adolescents Affected by Congenital Hypothyroidism Compared to Their Sibling Controls Despite High Dose L-Thyroxin Treatment

Aleksander Paulina , Blankenstein Oliver , Gruters Annette , Krude Heiko

Background: An early diagnosis and treatment based on neonatal screening offers a normal cognitive development in patients affected with congenital hypothyroidism (CH). However, several studies within cohorts of young adults have shown a still existing difference compared to control groups of up to eight IQ points. Moreover it has been claimed recently that a high L-T4 dose with subsequent episodes of overtreatment results in less favourable IQ outcom...

hrp0084p2-255 | Diabetes | ESPE2015

Significant Impact of Nocturnal Melatonin Secretion on Obesity-Related Metabolic Disorders in Children and Adolescents

Overberg Johanna , Kuhnen Peter , Ernert Andrea , Krude Heiko , Wiegand Susanna

Background: In addition to its function in circadian rhythm Melatonin plays an important role in energy metabolism and body weight regulation. In animals pinealectomy induces insulin resistance and administration of melatonin to diabetes prone rats ameliorates their glucose metabolism. Furthermore loss-of-function mutations of the melatonin receptor gene are associated with insulin resistance and DM II in humans.Objective and hypotheses: So far the effec...

hrp0084p3-1193 | Thyroid | ESPE2015

NKX2-1 p.Asp266Argfs142X De Novo Mutation in a Girl with Congenital Hypothyroidism (CH): Phenotypic Description

Stoeva Iva , Thorwarth Anne , Stoilov Boris , Krude Heiko

Background: Ttf1−/− mice had complete absence of follicular and parafollicular cells, agenesis of lung parenchyma, ventral forebrain, and pituitary. Congenital hypothyroidism (CH) patients with chromosomal deletions encompassing the TTF1 locus and point mutations in the TTF1 gene confirmed its implication in the phenotype: CH with a thyroid gland in place, associated with respiratory distress syndro...

hrp0086p1-p15 | Adrenal P1 | ESPE2016

Individualized Optimization with 17OHP-Saliva Profiles Leads to Changes in Hydrocortisone Dosing Pattern in Children with Congenital Adrenal Hyperplasia

Neumann Uta , Lankes Erwin , Bathelt-Tok Franziska , Krude Heiko , Blankenstein Oliver

Background: Treatment of CAH in children is compromised by the pharmacokinetic of available hydrocortisone (HC) preparations resulting in un-physiological early morning rise of ACTH followed by elevated androgens. HC substitution usually follows a fixed dosing scheme (50%–25%–25%) monitored by blood sampling.Objective and hypotheses: We describe the individualized optimization of HC treatment by 17-OHP saliva profiles and the effects of the res...

hrp0086p1-p342 | Gonads & DSD P1 | ESPE2016

Genotype-phenotype Analysis of NR5A1/SF1 Mutations by Functional in vitro Studies

Astudillo Rebekka , Bashamboo Anu , Kleinau Gunnar , Biebermann Heike , Krude Heiko , Kohler Birgit

Background: The steroidogenic Factor 1 (SF1, NR5A1) is one of the key factors involved in gonadal and adrenal development and steroidogenesis. Until now, over 50 mutations were described in different phenotypes of XY disorders of sex development (DSD) such as complete gonadal dysgenesis, severe and mild partial gonadal dysgenesis, hypospadias, infertility and bilateral anorchia. So far, no genotype-phenotype correlation could be demonstrated.Objective an...

hrp0082fc3.4 | Diabetes | ESPE2014

Genetics of Paediatric Type 2 Diabetes: ABCC8 Mutation in Obesity-Associated Insulin Secretion Defects

Wiegand Susanna , Simaite Deimante , Dannemann Almut , Kuhnen Peter , Krude Heiko , Gong Maolian , Raile Klemens

Background: Type 2 diabetes in children and adolescents is a rare disease with an estimated incidence (age 0–20 years) of below 5/100 000 in Germany.Objective and Hypotheses: We hypothesize that monogenic alterations might contribute to early-onset insulin secretion defects, if islet function was challenged by obesity-associated insulin resistance.Method: We follow more than 1500 children and adolescents with obesity. Patients...

hrp0082fc13.2 | Thyroid | ESPE2014

Thyroid Agenesis and Severe Thyroid Hypoplasia Caused by a New Inactivating TSH Receptor Mutation Ala579Val

Wessel Theda , Handke Daniela , Kleinau Gunnar , Winkler Franziska , Gruters Annette , Kuhnen Peter , Krude Heiko , Biebermann Heike

Background: Congenital thyroid dysgenesis usually occurs sporadically and may even be discordant in monozygotic twins. However, when caused by inactivating mutations in the TSH receptor (TSHR) it can be inherited recessively, typically resulting in thyroid gland hypoplasia. We present a new familial case of thyroid dysgenesis with two siblings of consanguineous parents. The daughter was identified in neonatal screening with severely elevated TSH and thyroid agenesis on ultraso...

hrp0082p1-d2-124 | Fat Metabolism & Obesity (1) | ESPE2014

A Dual Role of Fetuin A on Cardiovascular Risk in Obese Children and Adolescents

Wiegand Susanna , Buermann Mareike , Ernert Andrea , Briese Silvia , Bau Ann-Madeleine , Krude Heiko

Background: Cardiovascular diseases are most relevant for morbidity and mortality in obese patients. Because metabolic complications already start in childhood obesity one may expect an early manifestation of cardiovascular disease in this group as young adults. In adults fetuin A was shown to promote adipocyte inflammation and metabolic syndrome and subsequently vascular damage.Objective and hypotheses: We evaluated the role of fetuin A in the vascular ...