hrp0082p3-d3-922 | Pituitary (1) | ESPE2014

A Case of Combined Pituitary Hormone Deficiency (CPHD) due to Anterior Pituitary Hypoplasia

Kvaratskhelia Ekaterine , Rekhviashvili Maia , Metreveli David , Willig Rolf Peter

Background: Multiple anterior pituitary hormone deficiency (MPHD) may present in the newborn period or in early infancy with hypoglycemia, prolonged cholestatic jaundice micropenis, undescended testes due to GH, ACTH, and LH deficiency. Central hypothyroidism is becoming manifest later, less severe than primary hypothyroidism, usually without intellectual impairment. A male patient was admitted to our clinic with severe short stature at the age of 2 years, born with normal len...

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...

hrp0084p2-499 | Perinatal | ESPE2015

Postnatal Catch-Down Growth is not Associated with Disturbances in Metabolic Parameters in Large-for-Gestational-Age Infants at the Age of 8 Years

Peters Julia , Woelfle Joachim , Joergens Susanne , Bartmann Peter , Gohlke Bettina

Background: Children born small-for-gestational-age (SGA) especially when they experience rapid catch-up growth have an increased risk for obesity and metabolic disturbances later in life.Aims and objectives: Little is known about the effect of catch-down (c-d) growth and its effect on metabolic parameters in children born large-for-gestational-age (LGA).Patients and methods: 101 pre-pubertal children with a birth-weight and/or len...

hrp0084p3-791 | DSD | ESPE2015

‘Female’, ‘Male’, or ‘Between’ in a 46, XY-Patient with a 17ß-HSD3-Mutation

Willig Rolf Peter , Algenstaedt Petra , Mohnike Klaus , Hiort Olaf

Background: 46, XY-disorders of sex development (DSD) are due to different causes like androgen insensitivity, gonadal dysgenesis, defects in testosterone metabolism and others. Exact diagnosis is mandatory prior to medical advice, therapeutic steps, or even surgical procedures. To show the difficulties of gender assignment before and also after a correct diagnosis we describe a patient who waited 35 years for the complete diagnosis, but was advised, treated and operated befor...

hrp0084p3-1069 | Hypo | ESPE2015

Experience Based on 193 18F-DOPA PET CTs in Patients with Congenital Hyperinsulinism: Pearls and Pitfalls in Imaging Diagnostics in Patients with CHI

Kuhnen Peter , Prasad Vikas , Brenner Winfried , Mohnike Wolfgang , Blankenstein Oliver

Background: In congenital hyperinsulinism (CHI) 18F-DOPA PET CT plays an essential role in differentiating between focal and diffuse CHI forms and in the analysis of the localization of a potential focus before surgery.Objective and hypotheses: The aim of this retrospective analysis was the evaluation of the 18F-DOPA PET CT efficacy in a large cohort of CHI patients.Method: In the last few years 193 18</s...

hrp0084p3-1083 | Hypo | ESPE2015

Cholestatic Hepatopathy and Hypoglycaemic Seizures as Primary Manifestation of Hypocortisolism in Infancy

Saupp Peter , Fried Michael , Bergmann Carsten , Meissner Thomas , Kummer Sebastian

Background: Cholestatic hepatopathy is a rare but serious threat to neonates and young infants. Their immature hepatic excretory function predisposes for severe and rapidly progressive hepatic injury. Because of the wide range of possible etiologies, it is often difficult to make an accurate diagnosis. One rare endocrine cause can be primary or secondary hypocortisolism.Case presentation: i) A 7-week-old term-born female with cholestasis, elevated liver ...

hrp0094p2-16 | Adrenals and HPA Axis | ESPE2021

Rapid clearance of hydrocortisone as a cause of poor control of CAH detected by 24-hour profiling of hydrocortisone concentrations.

Iordanidou Aikaterini , Ong Ken , Hindmarsh Peter , Gevers Evelien ,

Introduction: Hydrocortisone (HC) has a short half-life and individualization of treatment is required for optimal treatment of CAH, balancing between under- and overtreatment. Twenty four hour profiling of HC concentrations has shown large interindividual variation in clearance of HC and therefore has been used to individualize treatment. We present a severely virialized girl with CAH, in whom high doses of steroids failed to suppress androgen production thou...

hrp0084fc4.3 | Growth | ESPE2015

An Updated and Final Analysis of a Randomised Placebo-controlled Trial of the Effect of Oxandrolone and Timing of Pubertal Induction on Final Height in Turner Syndrome

Gault Emma-Jane , Cole Tim J , Perry Rebecca J , Casey Sarah , Paterson Wendy F , Hindmarsh Peter C , Betts Peter , Dunger David B , Donaldson Malcolm D C

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...

hrp0095fc1.3 | Thyroid | ESPE2022

Meta-analysis of DNA methylation datasets identifies aberrant DNA methylation of thyroid function and development genes in Down syndrome

Lauffer Peter , Zwaveling-Soonawala Nitash , Li Shaobo , Bacalini Maria , Naumova Oxana , Wiemels Joseph , Boelen Anita , Henneman Peter , de Smith Adam , van Trotsenburg Paul

Down syndrome (DS) is characterized by a higher incidence of congenital hypothyroidism (CH) and a high prevalence of subclinical hypothyroidism (SH) early in life. Children and adults with DS have an increased risk of developing autoimmune thyroid disease, however CH and early SH cannot be explained by thyroid autoimmunity. The etiology of CH and early SH in DS remains to be elucidated. Considering the recently discovered genome-wide transcriptional and epigenetic alterations ...

hrp0092fc9.6 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

[18F]F-DOPA-PET/MRI or /CT in Children with Congenital Hyperinsulinism

Empting Susann , Mohnike Konrad , Barthlen Winfried , Michel Peter , Wieland Ilse , Zenker Martin , Mohnike Wolfgang , Mohnike Klaus

Congenital hyperinsulinism (CHI) is a complex heterogeneous disease affecting 1 in 40.000 newborns. Recurrent hypoketotic hypoglycaemia led to permanent mental and motor disabilities in 30-40% of children. Histologically three types had been differentiated: focal, diffuse and atypical. Up to now, only focal-type CHI can be permanently cured by focus removal. Focal-type CHI is characterized by paternal inherited mutation of ABCC8 or KCNJ11 mutations. Therefore mutation anal...