hrp0089mte5.1 | Gonadal function in congenital adrenal hyperplasia (CAH) | ESPE2018

Gonadal Function in Congenital Adrenal Hyperplasia (CAH)

Claahsen - van der Grinten Hedi

Congenital adrenal hyperplasia (CAH) is a group of rare congenital disorders of the adrenal cortex due to a defect in one of the enzymes involved in steroid synthesis leading to cortisol deficiency and overproduction of adrenal androgens. In the most severe forms CAH is a life threatening disease due to the risk of Addisonian and salt wasting crisis. In the last 50 years diagnostics and treatment improved significantly. Patients are treated with lifelong replacement of glucoco...

hrp0097p1-146 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Evaluation of pubertal suppression in adolescents with gender dysphoria in different Tanner stadia

Becking-Malpasso Karlijn , Lahaije Fleur , Levels Willemien , Claahsen Hedi

Background: Gonadotropin-releasing hormone agonists (GnRHa) are common treatment in adolescents with gender dysphoria to prevent development of unwanted physical changes. However, the safe use of GnRHa is debated in the media and objective literature is sparse. Specifically, there is a lack of literature comparing between different Tanner stadia, since it is debatable whether GnRHa treatment is effective in adolescents who have almost gone through puberty (Tan...

hrp0097p2-140 | Adrenals and HPA Axis | ESPE2023

Testicular Adrenal Rest Tumors (TARTs) as presenting symptom of CAH due to CYP11A1deficiency.

Bakker-van Waarde Willie , Claahsen-van der Grinten Hedi

Background: TARTs mostly occur in congenital adrenal hyperplasia due to 21-hydroxylase deficiency, but were described in other forms of CAH. Elevated ACTH levels, may play a role in TARTs development. Here we describe the first child with undetected CYP11A1 deficiency who presented with TART.Case description: An 11 year old boy noticed left sided scrotal enlargement, without further complaints. Ultrasound showed a hydroc...

hrp0089p2-p339 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Results of Exome Sequencing in Disorders of Sex Development

Kempers Marlies , Claahsen Hedi , Alfen Janielle van , Velden van der , Rinne Tuula

Disorders or Differences of sex development (DSD) are a heterogeneous group of congenital conditions, involving variations of chromosomal, gonadal, or anatomical development. Diagnosis is based on clinical, biochemical, imaging and genetic evaluation. In recent years knowledge about genetic causes has increased, mainly due to improved genetic techniques. In this study we investigated the yield of exome sequencing in our patients with DSD. Patients and methods: Genetic i...

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...

hrp0082fc1.6 | Adrenal | ESPE2014

Molecular Characterization of Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia; Lesions with both Adrenocortical and Leydig Cell Features

Smeets Evelien , Span Paul , van Herwaarden Antonius , Wevers Ron , Sweep Fred , Claahsen-van der Grinten Hedi

Background: Characterization of testicular adrenal rest tumours (TART) are one of the major long-term complications in congenital adrenal hyperplasia (CAH) patients. Although several adrenal-like properties have been assigned to these benign lesions, the exact etiology has not been established yet.Objective and Hypotheses: The aim of this study was to analyze several (steroidogenic) characteristics of TART tissue which may be classified as adrenal cortex...

hrp0082p2-d1-267 | Adrenals & 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...

hrp0082p2-d3-563 | Puberty and Neuroendocrinology (2) | ESPE2014

Endocrine Abnormalities in Phosphoglucomutase 1 Deficiency

Mueksch Barbara , Morava Eva , Lefeber Dirk , Claahsen-van der Grinten Hedi , Korsch Eckhard

Introduction: Phosphoglucomutase 1 catalyzes the interconversion of glucose-6-phosphate and glucose-1-phosphate. Phosphoglucomutase 1 deficiency (PGM1-CDG), previously termed glycogenosis type XIV (OMIM 612934), is a rare variant of the congenital disorders of glycolysation (CDG), resulting in abnormal attachment and processing of protein linked N-glycans. We present a girl with PGM1-CDG and delayed pubertal development and review the endocrine findings of the few pat...

hrp0084p3-605 | Adrenals | ESPE2015

Delayed Diagnosis of Salt Wasting Congenital Adrenal Hyperplasia, without Complications of Cortisol Deficiency: A Case Report

Pijnenburg-Kleizen Karijn , Noordam Kees , Otten Barto , Claahsen-van der Grinten Hedi

Background: In salt wasting congenital adrenal hyperplasia (SW-CAH) patients suffer from a deficiency of both cortisol and aldosterone and develop life-threatening salt wasting crises neonatally. Treatment consists of glucocorticoids, mineralocorticoids and salt supplementation. We present a case with a two years delayed diagnosis of SW-CAH.Case presentation: The patient was admitted to the hospital at the age of two weeks because of poor feeding, irrita...

hrp0092t8 | Top 20 Poster | ESPE2019

Bone Mineral Density (BMD) in Women with Turner Syndrome (TS) from the DSD-LIFE Cohort, an Epidemiological Study

Pienkowski Catherine , El Allali Yasmine , Cartault Audrey , Ernoult Perrine , Grunenwald Solange , Reish Nicole , Claahsen-Van Hedi , Salles Jean-Pierre

Aim: The objective of the study was to determine bone mineralisation density in Turner syndrome (TS) from DSD life cohort, and to analyse the trabecular (lumbar spine = LS) and cortical bone (femoral neck = FN) mineralisation.Materials and Methods: This study was part of the DSD-LIFE study, a cross-sectional clinical outcome study of the BMD of TS adult patients from paediatric cohorts. BMD of the LS and FN were ...