hrp0097lb4 | Late Breaking | ESPE2023

A novel variant in PRKAR1A at the exon-intron border leads to aberrant splicing in patients affected by carney complex.

Grosse Martin , Abicht Angela , Gebhard Christian , Grasemann Corinna , Kiewert Cordula , Unger Nicole , Weber Frank , Bierkamp-Christophersen Dirk , J Kaiser Frank , Munteanu Martin

Carney complex 1 (CNC, OMIM# 160980) is an autosomal-dominantly inherited complex tumor predisposition syndrome associated with skin pigment abnormalities and neoplasms of heart, endocrine glands and other organs. CNC is caused by heterozygous constitutional loss-of-function variants in the PRKAR1A-gene. PRKAR1A codes for the cAMP-dependent protein kinase type I-alpha regulatory subunit, an enzyme that represents an integral part of protein kinase A (PKA) tha...

hrp0084p3-604 | Adrenals | ESPE2015

Severe High Blood Pressure with Renal Failure in a Neglected Case of 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia

Belceanu Alina Daniela , Munteanu Mihaela , Florea Mariana , Ungureanu Maria-Christina , Zmau George , Puiu Mirela , Armasu Ioana , Mogos Voichita , Vulpoi Carmen

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterised by impaired cortisol synthesis. An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 5–8% of cases. Patients present with features of androgen excess and approximately two thirds of patients also have high blood pressure (HBP), which is initially responsive to glucocorticoid replacement, but may become a c...

hrp0084p2-465 | Growth | ESPE2015

Making Adult Height Prediction Complete: Forecasting the Age of the Growth Spurt and the Height and Velocity Trajectories Until Adulthood

Martin David , Mortensen Sofus , Jenni Oscar , Thodberg Hans Henrik

Background: Adult height prediction (AHP) based on bone age appears as an incomplete procedure – it does not reveal the path from the present to the end-point. Growth charts offer little help in this respect because they average over children with different age of growth spurt (AGS).Objective and hypotheses: To extend AHP by also forecasting AGS and the entire height and velocity trajectories until adulthood and displaying this in a growth chart mad...

hrp0089s10.2 | Paediatric obesity: Mechanisms and novel treatment | ESPE2018

Functional Leptin Deficiency Disorders and Treatment

Wabitsch Martin

Leptin is a type I cytokine and belongs to the long-chain helical cytokine subfamily just as GH, IL-6 and G-CSF. Leptin is produced mainly in white adipose tissue and thereby reflects body energy stores. Leptin serum concentrations are high in obese and low in underweight individuals or in those with low body fat e.g. in athletes and in patients with lipodystrophy. The leptin/leptin receptor system is crucial for the regulation of body weight. Rare homozygous mutations in the ...

hrp0094s1.1 | Endocrine Hypertension - Aetiology Directed Management | ESPE2021

Pathogenesis of Familial and Sporadic Hyperaldosteronism: New Concepts Involving Ion Channels

Reincke Martin

Endocrine disorders are the most common causes of secondary hypertension. Early diagnosis and treatment is crucial for prevention of cardiovascular complications. Several rare but important entities like Cushing’s syndrome and pheochromocytoma/paraganglioma can cause endocrine hypertension, in contrast to primary aldosteronism, which is quite frequent. Definition, classification and prevalence: With a prevalence of 6% in unselected patients with hypertension, 5 to...

hrp0094s11.2 | Calcium and Phosphate Beyond Bone | ESPE2021

Vitamin D and male reproduction

Blomberg Jensen Martin ,

Newer studies have indicated that vitamin D has more widespread effects than the classical effects on bone and calcium-phosphate homeostasis. The presence of the vitamin D receptor (VDR) in the testis and male reproductive tract indicates a role for vitamin D in male reproduction. Indeed, vitamin D deficiency and global knock out models of VDR or CYP27B1 in rodents have shown that vitamin D and calcium are important regulators of male reproductive function. Several groups have...

hrp0095p1-112 | Growth and Syndromes | ESPE2022

Long-term follow-up of aromatase-inhibitor use in 3 family members with aromatase excess syndrome

Giannopoulou Eleni , Brandt Stephanie , Schmidt Martin , Fukami Maki , Wabitsch Martin

Introduction: Aromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced extraglandular aromatization of androgens and estrogen excess. Genomic rearrangements in chromosome 15q21 are found to result in overexpression of the aromatase gene CYP19A1. In males it is characterized by pre- or peripubertal gynecomastia, hypogonadotropic hypogonadism, advanced bone age and short adult height. Only a few female patients have been...

hrp0089p2-p064 | Diabetes & Insulin P2 | ESPE2018

Early Diagnosis of Diabetes Type 2 in Children with Progeria Syndromes

Bald Martin , Timmermann Kirsten , Wadien Tanja , Krahling Eva , Holder Martin

Progeria syndromes are rare in children and include several diseases which lead to premature ageing already in children. Therefore, the pediatrician may be confronted with diseases which are normally seen only in persons with advanced age. We report about two children with progeria, in whom diabetes type 2 become manifest early and with a fulminant course in one patient. The first boy was known with Cockayne syndrome, which belongs to the progeria syndromes. He suffered from l...

hrp0086p1-p113 | Bone & Mineral Metabolism P1 | ESPE2016

Extension of The Bone Health Index to Adults, and Reference Curves of Four Indices of Cortical Bone for Healthy Europeans

Martin David , Thodberg Hans Henrik

Background: The BoneXpert method for automated determination of bone age from hand X-rays has always included a determination of the Bone Health Index (BHI) from the cortical thicknesses in the metacarpals.Objective and hypotheses: The aim was to extend this so-called digital X-ray radiogrammetry method into adults, and present reference curves for BHI and three other indices: the metacarpal index, the Exton-Smith index and the volume-per-area (proportio...

hrp0086p1-p114 | Bone & Mineral Metabolism P1 | ESPE2016

Extension of Automated Bone Age Determination to the End of Puberty

Martin David , Thodberg Hans Henrik

Background: The BoneXpert method for automated determination of bone age (BA) from hand X-rays was introduced in 2009, covering the Greulich-Pyle BA range up to 17 years for boys and 15 years for girls.Objective and hypotheses: To present an extension of the BA range of the automated method up to 19 years for boys and 18 years for girls and to validate it against manual rating.Method: The extension was developed based on images fro...