hrp0094p2-247 | Growth hormone and IGFs | ESPE2021

A girl with concurrent congenital adrenal hyperplasia, isolated growth hormone deficiency type II (IGHD II) and a new mutation in the GH 1 gene – an extremely unusual case

Genthner N , Blum W , Kamrath C , Wudy SA ,

Background: Classical salt wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare disorder, as is isolated growth hormone (GH) deficiency Type II (IGHD II) due to mutation of the growth hormone gene GH1. Here we describe the unusual case of a girl with concurrent 21OHD and IGHD II and its complex diagnostic work up. A 15.3-year-old girl presented with classical salt wasting CAH due to 21OHD and short stature (height 148...

hrp0095p1-212 | Adrenals and HPA Axis | ESPE2022

Molecular Analyses of A Virilized Newborn. Implications in Clinical Management

Llorente Martín Elena , Jesús Dabad Moreno María , Bravo Gómez Adrián , Martínez Figueras Laura , Arriba Domènech María , Ruiz Cano Rafael , Ezquieta Zubicaray Begoña

Background-Aim: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroidogenic pathway of the adrenal cortex. In their most severe forms, they produce adrenal insufficiency and virilization of external genitalia when involving the terminal enzymes of the cortisol and aldosterone synthesis pathway (21-hydroxylase (21-OHD, OMIM#201910) and 11-hydroxylase (11-OHD, OMIM#202010) deficiencies). Mutations of <e...

hrp0095p2-215 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital Hypopituitarism and Diabetes Insipidus with Normal Radiological Pituitary Gland and a Mutation in IRF2BPL.

Jesús Dabad Moreno María , Ruiz Cano Rafael , Carmen Carrascosa-Romero María , Cerdán Oncala Sandra , Belén Delgado García Ana , De las Heras Gómez Lucía

Background: Congenital hypopituitarism (CH) is a group of disorders characterized by deficiencies in one or more hypophyseal hormones and a marked variability in genotype-phenotype correlations. Central diabetes insipidus (DI) is caused by a decreased release of ADH and results in a variable degree of polyuria. Their association is normally found in congenital cerebral midline abnormalities, such as septo-optic dysplasia.Objectiv...

hrp0097fc1.6 | Adrenals and HPA Axis | ESPE2023

Cardiovascular risk profile in adult patients with congenital adrenal hyperplasia: a cross-sectional study

van der Zwan Y.G. , Schrӧder M. , Stikkelbroeck N.M.M.L. , Reisch N. , Falhammar H. , Roeleveld N. , Claahsen-van der Grinten H.L.

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...

hrp0097p1-357 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Evaluation of the pituitary gland in patients with Fanconi Anemia

Corredor Andrés Beatriz , Solis Muñiz Inés , Zubicaray Josune , Martín Rivada Álvaro , Barrios Sabador Vicente , Sevilla Julián , Argente Jesús

Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Span...

hrp0095p1-496 | GH and IGFs | ESPE2022

The Effect of Anastrozole Treatment on Height Gain in Pubertal Boys on Growth Hormone Treatment

Tarçın Gürkan , Koç Çalışgan Cansu , Turan Hande , Ercan Oya

Introduction: In children receiving growth hormone (GH) therapy during puberty, epiphyseal fusion due to sex steroids often limits the height gain. Aromatase inhibitors may seem to help at this point despite the lack of evidence. Herein, it was aimed to investigate the efficacy of anastrozole for add-on treatment in pubertal male patients receiving GH therapy.Methods: This is a retrospective study comparing two groups of...

hrp0095p1-339 | Multisystem Endocrine Disorders | ESPE2022

Treatment-resistant hypokalemia and arterial hypertension: a prismatic case of low renin childhood hypertension

Rakicioglu H. , Kamrath C. , Genthner N. , Karatsiolis P. , Reincke M. , A. wudy S.

We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl),...

hrp0095p1-154 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Reference values in pelvic ultrasonography for a Spanish population of healthy girls between 6 and 12 years old

Corripio Raquel , Villalobos Marisa , Patricia Beltrán-Salazar Viviana , Pérez Jacobo , Duran Carmina

Background: Pelvic ultrasonography (PUS) of the uterus and ovaries allows the diagnosis of changes in sexual development. However, the reference values used in Spain originate from old studies conducted in other countries.Objective: To determine reference uterine and ovarian measurements by PUS and according to pubertal status and bone age in a Spanish population of healthy girls aged between 6 and 12 years.<p class=...

hrp0095p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic.

Solanas Martín Blanca , R. Howard Sasha , R. Hughes Claire , L. Storr Helen , H. Willemsen Ruben

Background: Polycystic ovary syndrome (PCOS) continues to be a diagnostic challenge in adolescent girls. Symptoms like oligomenorrhea and acne, and polycystic ovarian morphology on ultrasound can be normal variants in adolescents. In addition to diagnostic difficulties, there is lack of randomized controlled trials for PCOS treatments specific to adolescents. Current guidelines for diagnosis and management of PCOS in adolescents have large variations and rely ...

hrp0095p1-186 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Inflammation and polycystic ovary syndrome (PCOS). Utilising proteomic analysis to unravel the link between inflammatory proteins and PCOS in adolescents

Gunn Harriet , Oberg Emma , Hällqvist Jenny , Lindén Hirschberg Angelica , Steinbeck Katharine , Mills Kevin

Background and Methods: PCOS is common in adolescents and imparts a significant health and economic burden. Yet, our understanding of its complex pathogenesis is lacking. Proteomic analyses would be a valuable tool to deepen our knowledge of the biological pathways which underpin PCOS, and to identify novel biomarkers to diagnose and monitor this common condition. Therefore, we undertook a deep phenotyping discovery proteomic profiling (nano-2D-LC-QTOF MSe) on...