hrp0092p3-4 | Adrenals and HPA Axis | ESPE2019

A Female Infant with Severe Salt-Wasting due to Aldosterone Synthase Deficiency, Initially Mimicking Adrenal Insufficiency

Krull Simone , Kamrath Clemens , Schulze Egbert , Giatropoulou Sofia , Wudy Stefan

Background: Correct diagnosis of the etiology of adrenal deficiencies is essential for appropriate treatment.Case report: At the 12th day of life, the girl had suffered an episode of severe salt wasting with marked hyponatremia (109 mmol/l) and hyperkalemia (6.9 mmol/l). Under the assumption of adrenal insufficiency therapy with hydrocortisone and fludrocortisone as well as salt had been started. Unfortunately...

hrp0082p2-d1-269 | Adrenals & HP Axis | ESPE2014

Congenital Adrenal Hyperplasia Caused by 11β-hydroxylase-Deficiency as a Rare Differential Diagnosis of Precocious Pseudo-Puberty and Hypertension

Yakovenko Vira , Simon Anke , Schulze Egbert , Grulich-Henn Jurgen , Bettendorf Markus

Background: 11β-hydroxylase deficiency (HD) represents a rare cause of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency and excess of mineralcorticoids and androgens. The CYP11B1 gene on chromosome 8q22 encodes the 11β-hydroxylase.Objective: To report clinical, biochemical and molecular features of patients with 11β-HD.Results: Four male patients of Turkish descent with 11β-HD incl...

hrp0089p2-p326 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Pituitary Adenomas in Children and Adolescents: A Retrospective Single-Centre Analysis

Breil Thomas , Lorz Catherine , Choukair Daniela , Mittnacht Janna , Inta Ioana , Klose Daniela , Jesser Jessica , Schulze Egbert , Bettendorf Markus

Background: Paediatric pituitary adenomas are rare and mostly benign disorders which may secrete pituitary hormones. Prolactinomas account for half of all pituitary adenomas (PROLA), followed by non-secreting adenomas (20–40%; incidentalomas), adrenocorticotropic-hormone secreting adenomas (10–30%; ACTHA) and growth-hormone-secreting adenomas (5–15%; GHA).Methods: In this single-centre retrospective analysis clinical, biochemical and radio...