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...

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...

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...

hrp0086p1-p48 | Adrenal P1 | ESPE2016

Cardiac Function in Pediatric Patients with Congenital Adrenal Hyperplasia

Mooij Christiaan F. , Pourier Milanthy S. , Weijers Gert , de Korte Chris L. , Claahsen - van der Grinten Hedi L. , Kapusta Livia

Background: Congenital adrenal hyperplasia (CAH) is characterized by cortisol deficiency and hyperandrogenism. Both hyperandrogenism and treatment with supraphysiological doses of glucocorticoids may cause unfavorable changes in the cardiovascular risk profile of CAH patients. Data on the cardiac function in CAH patients is scarce.Objective and hypotheses: To evaluate the cardiac function in pediatric CAH patients.Method: The cardi...

hrp0086p1-p374 | Gonads & DSD P1 | ESPE2016

GATA Transcription Factors in Testicular Adrenal Rest Tumours

Engels Manon , Span Paul , van Herwaarden Teun , Hulsbergen-van de Kaa Christina , Sweep Fred , Claahsen-van der Grinten Hedi

Background: Testicular Adrenal Rest Tumours (TARTs) are benign tumours that frequently occur in male patients with congenital adrenal hyperplasia. They exhibit both testicular and adrenal characteristics, but their aetiology is unknown. Additionally, TART resembles Leydig cell tumours (LCTs), while no marker exist to discriminate between these testis tumours. GATA transcription factors play an important role in eukaryotic development and are expressed in foetal and adult adren...

hrp0097p2-42 | Adrenals and HPA Axis | ESPE2023

Exploring the Experiences of Parents of Children with Congenital Adrenal Hyperplasia: a study in Developing Country

Utari Agustini , Dewi Ariani Mahayu , Galih Panunggal Damianus , L Claahsen-van Der Grinten Hedi , MH Faradz Sultana , Ediati Annastasia

Keywords: Congenital Adrenal Hyperplasia, Parent’s experience, Focus Group DiscussionBackground: Congenital Adrenal Hyperplasia (CAH) leads to many unseen social burdens for parents, including ambiguous genitalia (in girls), lifelong use of medication, including stress dosing, social and psychological pressure, and stigmatization. This study aimed to investigate various lived experiences of parents caring for their...