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...

hrp0097p1-6 | Adrenals and HPA Axis | ESPE2023

A retrospective analysis of children and youth with congenital adrenal hyperplasia treated with hydrocortisone modified-release hard capsules

Neumann Uta , von Mackensen Jolande , Lankes Erwin , Blankenstein Oliver

Context: Children with congenital adrenal hyperplasia (CAH) require hydrocortisone replacement from birth. The highest ACTH driven endogenous production of androgens happens in the early morning. To achieve a good therapy control, immediate release hydrocortisone is given early in the morning or late at night. In year 2021 the hydrocortisone modified-release hard capsule (Efmody®) was approved by the European medicine agency and from September 2021 it is l...

hrp0089p2-p285 | Multisystem Endocrine Disorders P2 | ESPE2018

Bone Marrow Failure in McCune Albright Syndrome

Wechsung Katja , Lankes Erwin , Kuhnen Peter , Stackelberg Arend von , Schnabel Dirk

Background: A somatic activating GNAS mutation leads to the triad of café au lait macules, fibrous dysplasia and precocious puberty known as Mc Cune Albright Syndrome (MAS). We present a patient with bone marrow failure as a rare non-endocrine complication of MAS.Clinical case: A 2-year-old girl with neonatal giant cell hepatitis, a large right sided café au lait spot and fibrous dysplasia was diagnosed with MAS. The severe polyostotoc fibrous ...

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-p916 | Thyroid P1 | ESPE2016

Papillary Thyroid Carcinoma in a Mother and Child Evolving after the Manifestation of Grave’s Disease

Al Badi Maryam , Lankes Erwin , Kuehnen Peter , Al Semani Aisha , Biebermann Heike , Krude Heiko , Schmid Kurt , Grueters Annette

Background: Familial PTC manifesting in childhood has been described only in single cases, mainly in the context of rare syndromes (APC-associated-syndrome, PTEN-hamartoma syndromes etc). PTC in Grave’s disease (GD) has been described in adults, but not in familial cases including young children.Objective and hypotheses: We investigated the association of large metastatic papillary carcinoma (PTC) in a 10 years old female and her mother evolving rap...