hrp0092p1-92 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Rare Case of Pseudoisodicentric X Chromosome in a Patient with Primary Amenorrhoea

Schipper Saskia , Aarts Coranne , van der Linde Annelieke

Background: Pseudoisodicentric X chromosomes with an Xq deletion (46,X,idic(Xq)) are rare. Most cases are mosaic, the other cell line being 45,X. Nonmosaicism is rare. Phenotype is characterized by the resultant of the X deletion. Variations from short to tall stature can occur and premature ovarian failure is a common feature.Case presentation: A 16 year old girl was referred to our clinic with primary amenorrhoea. She ...

hrp0095p2-153 | GH and IGFs | ESPE2022

Avascular necrosis of the hip as a rare complication of growth hormone therapy

van der Linde Annelieke , van Baelen Amber , van Bergen Christiaan

Background: Growth hormone therapy can be indicated for children who are born small for gestation age (SGA) (either birth weight or birth height < -2 SDS) without catch-up growth (height < -2.5 SDS) at age 4 years. Growth hormone therapy is considered a safe treatment.Case presentation: A 12-year-old girl was referred to the pediatric endocrinologist for short stature. She was born small for gestational age (birth ...

hrp0086p1-p750 | Pituitary and Neuroendocrinology P1 | ESPE2016

Personalized Health Care: Home POCT Sodium Measurement in Diabetes Insipidus Centralis in a Patient with Impaired Thirst Perception

van der Linde Annelieke , van Herwaarden Teun , de Grouw Elke , Claahsen - van der Grinten Hedi

Background: Central diabetes insipidus (CDI) is caused by deficiency of antidiuretic hormone (ADH). Patients with CDI are at risk for fluid balance disturbances, especially when there is impaired thirst perception or inability to access water freely. Serum sodium measurement gives a good reflection of the actual fluid balance but is generally not available in the home situation. For patients in which CDI is difficult to manage sodium measurement at home may be a good instrumen...

hrp0082p2-d1-267 | Adrenals &amp; HP Axis | ESPE2014

An adolescent with Hypertension Caused by Primary Hyperaldosteronism due to KCNJ5 Mutation

van der Linde Annelieke , Deinum Jaap , Konijnenberg Yvette , Keijzer-Veen Mandy , Claahsen-van der Grinten Hedi

Background: Primary aldosteronism (PA) is a rare form of secondary hypertension. In adults PA is often caused by unilateral adrenal adenoma which can be cured by unilateral adrenalectomy. However, in young patients hereditary causes of PA have to be considered with bilaterally affected adrenal glands.Objective and hypotheses: We report on an adolescent with PA due to a recently described KCNJ5 mutation and want to point out the importance of performing m...

hrp0084p2-196 | Adrenals | ESPE2015

The Role of the Nurse Practitioner in Optimising Care for Children with Congenital Adrenal Hyperplasia

van de Crommert Viviane , van Alfen-van der Velden Janielle , van der Linde Annelieke , Noordam Kees , Claahsen-van der Grinten Hedi

Background: Congenital Adrenal Hyperplasia (CAH) is a rare group of congenital adrenal diseases with an estimated prevalence of about ten newly diagnosed patients in the Netherlands per year. Morbidity and mortality improved significantly in the last 20 years mainly due to improvement of multidisciplinary care and education of patients and parents. In the last years the role of the nurse practitioner (NP) as case manager in the care and follow up of patients with chronic disea...

hrp0084p2-197 | Adrenals | ESPE2015

Evaluation of Medical Treatment in the First 2 Years of Life with a New Dutch National Longitudinal Registry for Children with Congenital Adrenal Hyperplasia (CAH)

van der Linde Annelieke , van den Akker Erica , Bakker- van Waarde Willy , Hannema Sabine , Hoorweg-Nijman Gea , van de Kamp Hetty , Klink Daniel , Odink Roelof , Straetemans Saartje , van Trotsenburg Paul , Verkerk Paul , Claahsen-van der Grinten Hedi

Background: Recently, a national database has been developed to register yearly data from all children detected with CAH in the neonatal screening program from 2002 onwards. So far longitudinal data of 105 children have been registered (roughly 65% of Dutch CAH patients) to evaluate medical treatment and long-term effects in CAH. A national CAH work group developed guidelines for diagnostics and follow up in CAH.Objective and hypotheses: Aim of our curre...

hrp0092p1-157 | Adrenals and HPA Axis (1) | ESPE2019

Influence of Salt Supplementation on Drug Therapy in Children with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency Aged 0-3 Years: Update on a Retrospective Multicentre Analysis Using the I-CAH Registry

Neumann Uta , van der Linde Annelieke , Krone Ruth , Guven Ayla , Güran Tülay , Elsedfy Heba , Darendeliler Feyza , Bachega Tania , Balsamo Antonio , Hannema Sabine , Birkebaek Niels , Vieites Ana , Acerini Carlo , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Costa Eduardo , Atapattu Navoda , de Vries Liat , Filho Guilherme , Korbonits Marta , Mohnike Klaus , Bryce Jillian , Ahmed Faisal , Voet Bernard , Blankenstein Oliver , van der Grinten Hedi Claahsen

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...