Adrenals and HPA Axis

hrp0095p1-1 | Adrenals and HPA Axis | ESPE2022

Collection of salivary steroids in children under conditions replicating home sampling

Tonge Joseph , Keevil Brian , Craig Jessica , Langley Joe , Whitaker Martin , Ross Richard , Elder Charlotte

Background: Measurement of salivary glucocorticoids is an accepted method for testing adrenal function and is gaining popularity as it offers a non-invasive collection technique, enabling sampling in the community or home environment, allowing tailored capture of steroid circadian rhythm and improved patient experience. However, there is little data on stability during home collection and sampling methods in young children. Current salivary collection techniqu...

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hrp0095p1-2 | Adrenals and HPA Axis | ESPE2022

Growth evaluation by applying the QEPS growth model in patients with CAH

Navardauskaite Ruta , Verkauskiene Rasa , Niklasson Aimon , F.M Nierop Andreas , Albertsson-Wikland Kerstin , Holmgren Anton

Objective: Patients with congenital adrenal hyperplasia (CAH) seldom achieve their target height. Early adrenarche may accelerate bone age maturation and affect adult height. The QEPS-growth-model have been used for developing growth references and investigating healthy/pathological growth, however, not before used in individuals with endocrine disorders. This study aimed to evaluate growth patterns in CAH-patients with the QEPS-model.<s...

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hrp0095p1-3 | Adrenals and HPA Axis | ESPE2022

Blood pressure (BP) status in Congenital Adrenal Hyperplasia (CAH) – longitudinal analysis of real world data from the I-CAH registry

R. Lawrence Neil , Bacila Irina , Dawson Jeremy , R. Ali Salma , LT van den Akker Erica , Aparecida Sartori Sanchez Bachega Tânia , Baronio Federico , Holtum Birkebæk Niels , Bonfig Walter , Claahsen van der Grinten Hedi , Cools Martine , Correa Costa Eduardo , de Vries Liat , Flück Christa , Gazdagh Gabriella , Güven Ayla , Hannema Sabine , Iotova Violeta , J van der Kamp Hetty , Krone Ruth , Leka-Emiri Sofia , Clemente León María , Raducanu Lichiardopol Corina , L. Markosyan Renata , Milenkovic Tatjana , Costa de Miranda Mirela , Neumann Uta , Newell-Price John , Poyrazoğlu Şükran , Probst-Scheidegger Ursina , Russo Gianni , De Sanctis Luisa , Safwaan Adam , Seneviratne Sumudu , Rita Stancampiano Marianna , Tadokoro-Cuccaro Rieko , Thankamony Ajay , Vieites Ana , Wasniewska Malgorzata , Yeste Diego , Daniel Eleni , Tomlinson Jeremy , Faisal Ahmed S. , Krone Nils

Introduction: Data on BP in children with classic congenital adrenal hyperplasia (CAH) is inconsistent.Aim: To assess the trend in BP throughout childhood using data from the International CAH registry and compare this to normative data from the American Academy of Paediatrics (AAP).Method: This retrospective multi-centre study included 37 centres from 20 countries. BP data was ana...

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hrp0095p1-4 | Adrenals and HPA Axis | ESPE2022

Glucocorticoid-induced adrenal insufficiency: morning plasma cortisol values safely assess recovery of the HPA axis in pediatrics

Laulhé Margaux , Dumaine Cécile , Chevenne Didier , Leye Fallou , Faye Albert , Dozières Blandine , Strullu Marion , Viala Jérôme , Hogan Julien , Houdouin Véronique , Léger Juliane , Simon Dominique , Claude Carel Jean , Storey Caroline , Guilmin-Crépon Sophie , Martinerie Laetitia

Background and Objectives: Chronic administration of synthetic glucocorticoids affects 1% of the world population and is responsible for secondary adrenal insufficiency for 40% of the patients. In pediatrics, glucocorticoid-induced adrenal insufficiency (GI-AI) diagnosis is based on the Low Dose Synacthen Test (LD-SST). Screening for glucocorticoid-induced adrenal insufficiency implies medical and economical costs due to the necessity of an intravenous line an...

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hrp0095p1-5 | Adrenals and HPA Axis | ESPE2022

Urinary steroid metabolite ratios: sex- and age-dependent changes and use for the differential diagnosis of inborn steroidogenesis disorders

S. Baranowski Elizabeth , Guran Tulay , C. Gilligan Lorna , Shaheen Fozia , Utari Agustini , M.H. Faradz Sultana , E. Van Herwaarden Antonius , L. Claahsen - van der Grinten Hedi , E. Taylor Angela , H.L. Shackleton Cedric , Arlt Wiebke

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...

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hrp0095p1-6 | Adrenals and HPA Axis | ESPE2022

Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children

A. Musa Salwa , A. Abdullah Mohamed , S. Hassan Samar , Qamar Younus , Hall Charlotte , Maitra Saptarshi , V Maharaj Avinaash , Mariela Marroquin Ramirez Lucia , Read Jordan , Smith Christopher , F Chan Li , A Metherell Louise

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

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hrp0095p1-7 | Adrenals and HPA Axis | ESPE2022

Management of mineralocorticoid deficiency in Congenital Adrenal Hyperplasia – a single centre study

Shan Queenie See Wing , Alexander Ashley , Katugampola Harshini , Atterbury Abigail , Tollerfield Sally , Dattani Mehul

Introduction: Glucocorticoid replacement has been the main focus of research in congenital adrenal hyperplasia (CAH). However, few studies have focused on mineralocorticoid replacement.Aim: Evaluation of mineralocorticoid replacement in a large cohort (n=124) with CAH recruited retrospectively over a 10-year (2010-2020) period.Methods: We recruited 124patients (71female, 5...

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hrp0095p1-8 | Adrenals and HPA Axis | ESPE2022

Evolution of the Short Synacthen Test over a decade - a single UK centre’s experience

Ross Callum , Craig Jessica , Hariprasad Anu-Sree , Auckland Isobel , Colyer Sharon , Elder Charlotte

Background: The Short Synacthen Test (SST) is the most popular test of adrenal insufficiency (AI) worldwide. The current SST protocol at Sheffield Children’s Hospital (SCH), UK, recommends measurement of serum cortisol at baseline, then 30- and 60-minutes post stimulation, with a peak cortisol of >429nmol/l constituting a pass. Our practice has evolved to consider near-pass results as “borderline” and patients may be treated with stress do...

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hrp0095p1-9 | Adrenals and HPA Axis | ESPE2022

Identification of a novel CYP11B2 variant in a family with varying degrees of aldosterone synthase deficiency

Garrelfs Mark , Rinne Tuula , Hillebrand Jacquelien , Lauffer Peter , Bijlsma Merijn , Claahsen-van der Grinten Hedi , de Leeuw Nicole , Finken Martijn , Rotteveel Joost , Zwaveling-Soonawala Nitash , Nieuwdorp Max , van Trotsenburg Paul , Mooij Christiaan

Background: Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2. To date, more than forty different pathogenic variants in the CYP11B2 gene causing isolated aldosterone synthase deficiency have been identified. We report on a novel pathogenic CYP11B2 variant.Case report: The second child (male) of consanguineous, healthy parents, presented shortly after...

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hrp0095p1-10 | Adrenals and HPA Axis | ESPE2022

Outcomes of the low dose short Synacthen test in infancy

Park Julie , Jones Lily , Dharmaraj Poonam , Senniappan Senthil , Morgan Colin , Hawcutt Daniel , Blair Joanne

Background: The hypothalamic-pituitary-adrenal (HPA) axis may be suppressed at birth. In most infants this is tolerated well. HPA testing in infancy often generates ‘abnormal’ results although abnormalities of the HPA may not be identified and cortisol measurements often ‘normalise’ over time.[1]Aim: To contribute to the evidence base on neonatal HPA activity by reporting outcomes of infants age &...

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hrp0095p1-11 | Adrenals and HPA Axis | ESPE2022

Low-dose ACTH Stimulation Test: Comparison of Cortisol Response at 30, 40, and 60 Minutes

Gurpinar Tosun Busra , Arikan Hazal , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is commonly used for evaluating the adequacy of hypothalamo-pituitary-adrenal axis functions. However, there is still no standardization between protocols used in different centres.Objective: To contribute to the optimal time of highest cortisol response in the LDST in children.Design: A prospective study of L...

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hrp0095p1-12 | Adrenals and HPA Axis | ESPE2022

Novel Homozygous Mutation in a Boy with Pseudohypoaldosteronism Type 1

Saffari Fatemeh , Homaei Ali

Pseudohypodosteronism type 1 (PHA-1) is an inherited disease caused by the resistance of peripheral tissues to aldosterone, leading to severe salt loss in infants. This rare disease is caused by mutations in the amiloride-sensitive epithelial sodium channel subunits (ENaCs). Loss-of-function mutations in ENaCs lead to PHA-1, which is associated with neonatal salt wasting. PHA1 can be transmitted as autosomal dominant and recessive forms. Patients with the autosomal dominant fo...

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hrp0095p1-13 | Adrenals and HPA Axis | ESPE2022

Clinical characteristics and pubertal development in Greek girls with premature adrenarche.

Athina Vlachopapadopoulou Elpis , Dikaiakou Eirini , Kosteria Ioanna , Athanasouli Fani , Kafetzi Maria , Michalacos Stefanos

Background: Premature adrenarche (PA) is characterized by the appearance of pubic and axillary hair associated with an increase in adrenal androgen production, in the absence of central puberty, steroidogenic enzyme defects, or virilizing tumors, before the age of 8 years in girls and 9 years in boys. Studies have shown increased likelihood of PA for children with obesity and those born small for gestational age (SGA).Aim:</stron...

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hrp0095p1-14 | Adrenals and HPA Axis | ESPE2022

Demographic, Clinical, Hormonal And Genetic Characteristics Of Children And Adolescents With Congenital Adrenal Hyperplasia Due To 11-Beta Hydroxylase Deficiency

Nur Peltek Kendirci Havva , Bayramoğlu Elvan , Aycan Zehra , Hatipoğlu Nihal , Ahmet Uçaktürk Seyit , Özalkak Şervan , Özsu Elif , Demet Akbaş Emine , Aydın Murat , Dündar İsmail , Ercan Oya , Demirbilek Hüseyin , Çetinkaya Semra

Introduction: 11-beta hydroxylase deficiency(11β-OHaseD) is the second frequent congenital adrenal hyperplasia(CAH) form. This study aimed to determine demographic and genetic characteristics and final height, to evaluate the long term clinical follow-up of children&/adolescents with 11β-OHaseD.Material and Methods: The study is designed as a multicenter, national, retrospective. 60 cases from 11 Pediatric ...

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hrp0095p1-15 | Adrenals and HPA Axis | ESPE2022

Growth from Birth to Adult Height in Patients with Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: A Collaborative Study

Clemente María , Teresa Sandino María , Escribano Arancha , Berrade Sara , Campos Ariadna , Yeste Diego

Objective: To evaluate growth in patients with classical CAH.Patients and methods: Retrospective, longitudinal and multicentric study of patients with classical CAH due to 21-hydroxylase deficiency who had achieved adult height(AH).Excluded: boys with simple virilising forms(SV)>1-year at diagnosis. Normative Control Group:Millennials Longitudinal Growth Study(2018). According t...

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hrp0095p1-16 | Adrenals and HPA Axis | ESPE2022

Long-term follow-up of three male siblings with a novel NNT pathogenic variant causing primary adrenal insufficiency

Kotnik Primoz , Krasovec Tjasa , Sikonja Jaka , Zerjav Tansek Mojca , Debeljak Marusa , Ilovar Sasa , Trebusak Podkrajsek Katarina , Bertok Sara , Tesovnik Tine , Kovac Jernej , Suput Omladic Jasna , F Hartmann Michaela , A Wudy Stefan , Avbelj Stefanija Magdalena , Battelino Tadej , Groselj Urh

Nicotinamide nucleotide transhydrogenase (NNT) is expressed in the heart, thyroid, and testicles, where it maintains the balance of reactive oxygen species in the mitochondria. It is linked, by an insufficiently described mechanism, to primary adrenal insufficiency (PAI) with or without mineralocorticoid insufficiency and several extra-adrenal manifestations (i.e. gonadal adrenal rest tumors, cardiomyopathy, hypothyroidism, and precocious puberty). A comprehensive and chronolo...

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hrp0095p1-17 | Adrenals and HPA Axis | ESPE2022

Expanding the phenotype of deglycosylation disorders: Adrenal Insufficiency and Micropenis in NGLY1-CDDG

Levy-Khademi Floris , Korman Stanley , Auerbach Adi , Avnon-Ziv Carmit

Background: NGLY1 encodes the enzyme N-glycanase that catalyzes protein deglycosylation in the process of protein degradation. Loss of function mutations in NGLY1 lead to a disorder of N-linked deglycosylation which is a rare multisystemic disease. The typical phenotype includes intellectual disability, liver dysfunction, muscular hypotonia, involuntary movements and decreased or absent tear production. Adrenal insufficiency has been previously reported in onl...

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hrp0095p1-18 | Adrenals and HPA Axis | ESPE2022

Very early and atypical presentation of Triple A (Allgrove) syndrome

Cehic Maja , Kovacevic Gordana , Milenkovic Tatjana , Kravljanac Ruzica , Todorovic Sladjana , Vukovic Rade , Panic-Zaric Sanja , Katarina Mitrovic

Background: Triple A (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by the alacrimia, achalasia, and adrenal insufficiency triad. Alacrimia starts in early infancy, while achalasia and adrenal insufficiency appear subsequently during childhood or adulthood. We are presenting an infant with very early and simultaneous clinical manifestations of triple A syndrome.Case presentation: An 11-month-ol...

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hrp0095p1-201 | Adrenals and HPA Axis | ESPE2022

Gene Chimeras Involving CYP21A2 and TNXB Genes in Spanish Patients with Congenital Adrenal Hyperplasia (CAH)

Martínez Figueras Laura , Escribano Muñoz Arancha , Carcavilla Atilano , Berthold Laura , Llorente Martín Elena , Arriba Domènech María , Ezquieta Zubicaray Begoña

Background-Aim: Gene rearrangements between CYP21A2, TNXB and their homologous pseudogenes (CYP21A1P,TNXA) result in chimeric genes, responsible for the CAHX syndrome. CAHX patients show CAH and Ehlers-Danlos syndrome (EDS) symptoms. Three CAHX chimeras with different clinical severity are described: CH1 (including 120bp deletion in exon 35), CH2 and CH3. The small size and few series reported so far warrant further studies ...

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hrp0095p1-202 | Adrenals and HPA Axis | ESPE2022

Abstract Withdrawn...

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hrp0095p1-203 | Adrenals and HPA Axis | ESPE2022

P450 oxireductase (POR) regulates blood brain (BBB) maturation by mediating retinoic acid (RA) metabolism in a model of the human BBB

Dor Zlotnik , Tatiana Rabinski , Aviv Halfon , Inbar Plascheks , Hadar Benyamini , Yuval Nevo , Orly Yahalom-Gershoni , Benyamin Rosental , Ayal Ben-Zvi , Gad Vatine , Eli Hershkovitz

Background: The blood-brain barrier (BBB) is a multicellular neurovascular unit (NVU) that allows selective passage of necessary molecules into the central nervous system (CNS) while limiting the entry of neurotoxins and most drugs. A cross talk with pericytes and neural cells mediates the acquisition of tight junctions (TJs) in brain microvascular endothelial cells (BMECs), which limit the paracellular passage of solutes, thereby regulating CNS homeostasis. H...

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hrp0095p1-204 | Adrenals and HPA Axis | ESPE2022

Reduced cognitive function in children with classical 21-hydroxylase deficient congenital adrenal hyperplasia (21OHD-CAH).

Ladjouze Asmahane , Hamiche Nalia , Boulesnane Kamelia , Aboura Rawda , Bouhafs Nadjet , melzi souhila , Bouzerar Zair , Donaldson Malcolm

Background: In the absence of a national screening program for congenital adrenal hyperplasia (CAH), children are often diagnosed late, when unwell with salt-wasting crisis or hypoglycemic symptoms. In 21-hydroxylase deficient CAH (21OHD-CAH), girls usually present with a disorder of sex development (DSD) and are thus diagnosed earlier than boys who present with salt-wasting.Aim: To investigate the global intelligence of...

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hrp0095p1-205 | Adrenals and HPA Axis | ESPE2022

Exploring the growth curves of 248 Chinese patients aged 0-3 years with salt-wasting 21-hydroxylase deficiency

Li Yingying , Fan Xin , Wang Yirou , Zhao Xiu , Pan Lili , Yu Yuting , Gong Gong Chunxiu , Su Zhe

Background: To construct the growth curves of body length and weight for Chinese patients from birth to 3 years with salt-wasting 21-hydroxylase deficiency (SW 21-OHD), changes in body mass index (BMI) will also be described, so as to explore the growth pattern of these special patients and guide the monitoring of early growth.Methods: The body length and weight data of SW 21-OHD patients aged 0-3 years who visited in 4 ...

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hrp0095p1-206 | Adrenals and HPA Axis | ESPE2022

Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations

Dursun Fatma , Maras Genc Hulya , Mine Yılmaz Ayşe , Tas Ibrahim , Eser Metin , Pehlivanoglu Cemile , Karademir Yilmaz Betul , Guran Tulay

Background: Biallelic QRSL1 mutations cause mitochondrial “combined oxidative phosphorylation deficiency-40” (COXPD40). COXPD40 has been reported invariably lethal in infancy. Adrenal insufficiency was weakly reported and investigated among seven previously reported patients with COXPD40.Objective: We report clinical, biochemical, molecular, and functional characteristics of a patient with adrenal in...

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hrp0095p1-207 | Adrenals and HPA Axis | ESPE2022

Clinical and genetic characteristics of androgen insensitivity syndrome

Ting Wu

Background: Androgen insensitivity syndrome (AIS) is a common 46XY disorders of sex development (DSD), which is mainly caused by mutations in the androgen receptor (AR) gene. The clinical manifestations vary among patients, depending on residual androgen receptor activity.Methods: Five patients with different degrees of masculinization of external genitalia were selected as the research objects. As well as the detailed m...

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hrp0095p1-208 | Adrenals and HPA Axis | ESPE2022

Targeting melanocortin type 2 receptor (MC2R) with peptides for the treatment of congenital adrenal hyperplasia

V Pandey Amit , Singh Shripriya , Parween Shaheena

Congenital adrenal hyperplasia (CAH) is a common disorder of steroid production mainly caused by a mutated CYP21A2 gene, causing 21-hydroxylase deficiency (21OHD). CAH due to 21OHD requires lifelong mineralocorticoid (MC) and glucocorticoid (GC) therapy. But, from the location of the enzyme block in the steroid production and increase of adrenocorticotropic hormone (ACTH) which stimulates the melanocortin type 2 receptor (MC2R) in the adrenal, excessive adrenal androgen produc...

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hrp0095p1-209 | Adrenals and HPA Axis | ESPE2022

Systematic review of cortisol levels during acute illnesses in children and young people not known to have glucocorticoid deficiency

Banerjee Indraneel , Patel Leena , Fullwood Catherine , Hird Beverly , Chawla Meghna , Tetlow Lesley , Rezai Mohammad

Importance: Current practice of doubling or trebling the basal glucocorticoid (GC) replacement dose during acute illnesses in children and young people (CYP) with GC deficiency is extrapolated from research in adults and not based on robust evidence. Endogenous cortisol levels during acute illnesses in CYP without GC deficiency can provide insight for optimal GC stress dosing for CYP with GC deficiency.Objective: To summ...

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hrp0095p1-210 | Adrenals and HPA Axis | ESPE2022

Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency: the correlation of 17-hydroxyprogesterone stimulated concentrations with genotype for the identification of the molecular defect- A study of 526 cases

Fylaktou Irene , Mertzanian Anny , Charmandari Evangelia , Kanaka-Gantenbein Christina , Sertedaki Amalia

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. CAH due to 21-hydroxylase deficiency (21-OHD) is attributed to mutations of the CYP21A2 gene and is distinguished into classic [salt wasting (SW), simple virilizing (SV)] and non-classic form. Herein we present a) the genetic investigation of 526 subjects with suspicion of 21-OHD in t...

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hrp0095p1-211 | Adrenals and HPA Axis | ESPE2022

Effect of maternal steroid medication prescribed during pregnancy on neonatal adrenal function

Ahmed Aneeq , Hattangadi Ibani , Gopalakrishna Nagapratheek , De Silva Shamani , Elder Charlotte , Ferguson Elspeth

Background: There is limited data supporting concerns that systemic corticosteroids, prescribed in pregnancy for maternal health reasons, can suppress the neonatal Hypothalamic-Pituitary-Adrenal (HPA) axis. Our study aimed to determine if neonates born to mothers on long-term or high dose steroids are at risk of adrenal suppression.Methodology: Neonates who underwent assessment of adrenal function over a seven-year perio...

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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...

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hrp0095p1-213 | Adrenals and HPA Axis | ESPE2022

Alterations in glucocorticoid metabolism as a possible cause of hypertension in childhood obesity

Martijn JJ Finken , JG Wirix Aleid , A von Rosenstiel-Jadoul Ines , van der Voorn Bibian , JM Chinapaw Mai , F Hartmann Michaela , E Kist-van Holthe Joana , A Wudy Stefan , Rotteveel Joost

Introduction: Childhood obesity is associated with alterations in hypothalamus-pituitary-adrenal axis activity. We tested the hypothesis that multiple alterations in the metabolism of glucocorticoids are required for the development of hypertension in children who become overweight.Methods: Timed spot urine for targeted gas chromatography-mass spectrometry steroid metabolome analysis was collected from (1) overweight/hyp...

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hrp0095p1-214 | Adrenals and HPA Axis | ESPE2022

Development and validation of simultaneous quantification of urinary catecholamines and free metanephrines by UHPLC-MS/MS method

Eugenia Rodriguez Maria , Gabriela Ballerini Maria , Ambao Veronica , Vieites Ana , Sanso Gabriela , Rey Rodolfo , Bergada Ignacio , Gabriela Ropelato Maria

Background: Neuroendocrine tumors from adrenal and extra-adrenal chromaffin cells are characterized by overproduction of catecholamines (CA), leading to the increase of urinary O-methylated metabolites (uO-Met) excretion, reliable biomarkers for the initial screening, diagnosis and monitoring of patients with pheochromocytoma and paragangliomas (PPGLs).Objective: To develop and validate a UHPLC-MS/MS method for the simul...

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hrp0095p1-215 | Adrenals and HPA Axis | ESPE2022

Salt-Wasting CAH phenotype as a result of the TNXA/TNXB Chimera 1 (CAH-X CH-1) and the severe IVS2-13A/C>G in CYP21A2 gene

Fanis Pavlos , Skordis Nicos , A Phylactou Leonidas , Neocleous Vassos

Background: Genetic diversity of mutations in the CYP21A2 gene is the main cause of the monogenic Congenital adrenal hyperplasia (CAH) disorder. On chromosome 6p23.1, the CYP21A2 gene is partially overlapped by the TNXB gene and reside in tandem with their highly homologous corresponding pseudogenes (CYP21A1P and TNXA), which leads to recurrent homologous recombination.Methods and Results: The genetic s...

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hrp0095p1-216 | Adrenals and HPA Axis | ESPE2022

Salivary Cortisol in Children with Congenital Adrenal Hyperplasia and Different Treatment Regimens

Dubinski Ilja , Bechtold-Dalla Pozza Susanne , Schmidt Susanne

Background: Children with classical congenital adrenal hyperplasia (CAH) require glucocorticoid replacement. The measurement of cortisol and steroid precursors in saliva is particularly suitable for pediatric endocrinology. Data on salivary cortisol measurements in patients with CAH is limited.Objective and hypothesis: The cortisol in saliva shows a circadian rhythm even under steroid substitution. This is independent of...

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hrp0095p1-217 | Adrenals and HPA Axis | ESPE2022

Precocious Pubarche in Girls - A Clinical Sign for Underlying Hyperandrogenic Disease

Galcheva Sonya , Karamfilova Teodora , Yordanova Nikolinka , Bocheva Yana , Mladenov Vilhelm , Iotova Violeta

Background: Precocious pubarche (PP), defined as the development of pubic hair before 8 years of age in females could be the first sign of a hyperandrogenic condition.Aim: The purpose of the study was to analyze the etiology of premature androgenization of girls with a history for PP and to evaluate their clinical, laboratory and ovarian ultrasound profile.Material and methods: A t...

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hrp0095p1-401 | Adrenals and HPA Axis | ESPE2022

Increased Basal Levels of 17-Hydroxyprogesterone In The Covid ERA: Must We Change The Cut-Off Point To Request Acth Test?

Laura Bertholt Zuber M. , Alonso Rubio Pablo , Palenzuela Revuelta Inmaculada , Pozas Mariscal Sara , Lavín Gómez Bernardo , Teresa Garcia Unzueta M.

Background: 17-hydroxyprogesterone (17-OHP) basal levels greater than 2ng/ml has been related to the need to request an ACTH test to dismiss non-classic congenital adrenal hyperplasia. We have seen an increase in baseline levels in 2021 compared to 2020.Objectives: To determine how many of the tests that were requested due to a high basal 17-OHP value, were positive. Assess the need to modify the cut-off points to reques...

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hrp0095p1-402 | Adrenals and HPA Axis | ESPE2022

Glucose regulation and cardiovascular health in children and young people with primary adrenal insufficiency

Park Julie , Hawcutt Daniel , Shantsila Alena , Lip Gregory , Blair Joanne

Background: Hypoglycaemia and poor cardiovascular outcomes are described in children and young people (CYP) with primary adrenal insufficiency (PAI). In this study, we described cortisol exposure during hydrocortisone replacement therapy, glucose regulation by continuous glucose monitoring (CGM) and cardiovascular function. Here, we present the final study data.Methods: CYP with PAI underwent CGM for 7 days using Dexcom ...

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hrp0095p1-403 | Adrenals and HPA Axis | ESPE2022

Outcomes of treatment in pediatric Cushing`s disease

Yanar Eda , Makazan Nadezhda , Kareva Maria

Objective: The first line of treatment for Cushing&grave;s disease (CD) is transsphenoidal surgery (TSS), whose effectiveness range is from 70 to 90%. If surgical treatment is unsuccessful or recurrence appears, radiation treatment (RT) is the next therapeutic option, which effectiveness range is also 90%, but the hypopituitarism rate as side effect of treatment is higher.Aim: Analysis of recurrence rates of CD and side ...

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hrp0095p1-404 | Adrenals and HPA Axis | ESPE2022

Steroid metabotyping in treated infants with classical congenital adrenal hyperplasia by chromatography-mass spectrometry analysis

Kamrath Clemens , Friedrich Clemens , Hartmann Michaela , Wudy Stefan

Objective: Cluster analysis of urinary steroid metabolome analysis obtained by gas chromatography-mass spectrometry (GC-MS) for treatment monitoring of infants with classic salt-wasting CAH. Methods: We evaluated metabolome analysis of spot urine samples of 60 young children ≤4 years of age (29 females) with classic CAH due to 21-hydroxylase deficiency treated with hydrocortisone and fludrocortisone. Subjects were divide...

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hrp0095p1-405 | Adrenals and HPA Axis | ESPE2022

Body composition in children and adolescents with non-classic congenital adrenal hyperplasia and risk for metabolic syndrome components – an observational study

Ben Simon Asaf , Brener Avivit , Segev-Becker Anat , Yackobovitch-Gavan Michal , Uretzky Adi , Schachter Davidov Anita , Oren Asaf , Eyal Ori , Lebenthal Yael

Context: Non-classic congenital adrenal hyperplasia (NCCAH) diagnosed in childhood, whether treated or untreated, could pose an increased risk of obesity and metabolic derangements in adolescence and early adulthood. Both sustained hyperandrogenism and chronic glucocorticoid therapy may affect body composition. However, little is known about the body composition of subjects with NCCAH and its contribution to the development of adverse metabolic outcomes. <...

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hrp0095p1-406 | Adrenals and HPA Axis | ESPE2022

Salt-wasting in newborns due to adrenal dysfunctions other than 21 OH Congenital adrenal hyperplasia (CAH) : a single center experience

Baronio Federico , Ferrari Vittorio , Maltoni Giulio , Alqaisi Randa , Cassio Alessandra

Introduction: Salt wasting is a potentially life-threatening condition in the newborn period. Other than 21 OH-CAH other rarer adrenal causes should be considered in the differential diagnosisObjective: To report the laboratory, clinical features, management and genotype of a series of consecutive patients who showed up at our Center for a salt wasting syndrome in the last 32 years, excluding patients with 21 OH CAH....

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hrp0095p1-407 | Adrenals and HPA Axis | ESPE2022

Agreement between Acth-low test and Insuline Tolerance Test in Patients with Risk Factors for Central Adrenal Insufficiency

Panciroli Marta , Angelelli Alessia , Fava Daniela , Patti Giuseppa , Napoli Flavia , Di Iorgi Natascia , Maghnie Mohamad

Background: Central adrenal insufficiency(CAI) is a potential life-threatening condition and a prompt diagnosis represents a clinical challenge; indeed, the Insulin Tolerance Test(ITT), gold standard for CAI diagnosis, can be contraindicated in some conditions. Aims were to evaluate the diagnostic value of the ACTH low test(ACTH-LT) compared to the ITT and to identify eventual determinants(primary diagnosis, risk factors, symptoms, baseline cortisol, hypothala...

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hrp0095p1-408 | Adrenals and HPA Axis | ESPE2022

Diverse clinical features, genetic etiologies, and histopathological features of adrenal neoplasms in children and adolescents

Choi Yunha , Hwang Soojin , Kim Gu-Hwan , Yoo Han-Wook , Choi Jin-Ho

Purpose: Adrenal neoplasms (ANs) are rare endocrine neoplasms in children, and etiopathogenesis and prognosis of pediatric ANs remain obscure. This study investigated clinical features, histopathological features, genetic etiologies and prognosis of ANs.Methods: This study included 33 ANs patients diagnosed from March 1997 to April 2021. Clinical features and endocrine findings were collected by retrospective medical cha...

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hrp0095p1-409 | Adrenals and HPA Axis | ESPE2022

Clinical, laboratory and body composition profile of young female patients with non-classic congenital adrenal hyperplasia

Karamfilova Teodora , Galcheva Sonya , Bocheva Yana , Ivanova Darina , Bazdarska Yuliya , Iotova Violeta

Background: Non-classic congenital adrenal hyperplasia (NCCAH) is a genetic disorder characterized by hyperandrogenism associated with potential metabolic alterations and changes in body composition and bone mineral parameters.Aim: The purpose of this pilot study was to evaluate the clinical and biochemical characteristics in association with bone mineral parameters and body composition in female patients diagnosed with ...

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hrp0095p1-410 | Adrenals and HPA Axis | ESPE2022

Neonatal Screening for Congenital Adrenal Hyperplasia in Saudi Arabia: A Retrospective, Descriptive study

Alshehri Eman , Alharbi Fahad

Background and Aims: A congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are interrupted by gene mutations. More than 90% of CAH, is caused by 21-hydroxylase (21OHD) deficiency. The 17α-hydroxylase (17OHD) deficiency one of the less common forms of CAH, can result in significant morbidity and mortality if left untreated, thus making early diagnosis essential. In Saudi A...

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hrp0095p1-411 | Adrenals and HPA Axis | ESPE2022

Prevalence and Incidence of Congenital Adrenal Hyperplasia in Denmark – a nationwide cohort study

Berglund Agnethe , Juul Ornstrup Marie , Lind-Holst Marie , Bækvad-Hansen Marie , Duno Morten , Juul Anders , Borch Luise , Jørgensen Niels , M. Main Kathrina , Hansen Dorte , Højbjerg Gravholt Claus

Aim: Increased clinical attention toward less severe cases of congenital adrenal hyperplasia (CAH) may affect both incidence and prevalence. In this nationwide population-based cohort study, we estimate incidence, prevalence, and age at diagnosis of CAH according to subtype and sex.Patients and Methods: Individuals registered with a diagnosis of CAH during 1977 to 2018 were identified in the Danish National Patient Regis...

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hrp0095p1-412 | Adrenals and HPA Axis | ESPE2022

A single centre experience of aromatase inhibitors to limit bone age advancement in pre-pubertal boys with adrenal disorders causing androgen excess

Shaunak Meera , Zichichi Giulia , Peters Catherine , Brain Caroline , Dattani Mehul

Introduction: Anastrozole, an aromatase inhibitor, prevents the conversion of androgen to oestrogen, which is required for the adolescent growth spurt and the attainment of peak bone mass. Anastrozole may help minimise bone age (BA) advancement in conditions associated with adrenal androgen excess, such as congenital adrenal hyperplasia (CAH) and premature adrenarche.Objectives: 1. To describe baseline characteristics an...

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hrp0095p1-413 | Adrenals and HPA Axis | ESPE2022

Incidence and severity of Coronavirus Disease 2019 (COVID-19) in children with primary and secondary adrenal insufficiency during the pandemic in Italy

Moracas Cristina , Russo Gianni , Baronio Federico , Ortolano Rita , Rita Stancampiano Marianna , Cavarzere Paolo , Zoller Thomas , Longhi Silvia , Felicia Faienza Maria , Patti Giuseppa , Elisabeth Street Maria , Guzzetti Chiara , Valenzise Mariella , Giavoli Claudia , Salerno Mariacarolina , Capalbo Donatella

Background: Adrenal insufficiency (AI) is a rare condition caused by an inadequate production of glucocorticoids. Preliminary data in adults suggest that AI could be associated with an increased susceptibility to infections; moreover, AI patients are at risk to develop a severe course of infectious diseases and to experience a life-threatening adrenal crisis. The aim of our study is to evaluate the severity and the outcome of COVID-19 in pediatric AI patients ...

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hrp0095p1-414 | Adrenals and HPA Axis | ESPE2022

A short intragenic inversion in CYP11B1 gene involved in a 46,XX virilizing congenital adrenal hyperplasia: interest of cross-use of targeted massively parallel and Sanger sequencing.

Janot Clément , Ladjouze Asmahane , Choron Kévin , Teoli Jordan , Plotton Ingrid , Mallet Delphine , Roucher-Boulez Florence

Background: Steroid 11-β hydroxylase deficiency is the second most frequent cause of adrenal hyperplasia (CAH) with autosomal recessive inheritance. Girls have importantly virilized external genitalia at birth, and boys display precocious pseudopuberty. Unlike others enzymatic deficiency involved in CAH, there is no salt wasting during infancy but patients develop hypertension. Because of more than 90% of homologous sequence between CYP11B1 gene ...

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hrp0095p1-415 | Adrenals and HPA Axis | ESPE2022

Basal cortisol measurements in the prediction of low-dose ACTH stimulation test outcomes

Gacemer Hazal , Gurpinar Tosun Busra , Yavas Abali Zehra , Helvacioglu Didem , Haliloglu Belma , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is widely used to assess patients for adrenal insufficiency. However, the predictive power of basal cortisol for the performance of LDST is not clear.Objective: To determine the appropriate basal serum cortisol cutt-off values that predict a positive or negative LDST.Design: A single-centre retrospective study...

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hrp0095p1-416 | Adrenals and HPA Axis | ESPE2022

The assessment of the usefulness of morning cortisol and DHEAS concentration levels in the diagnosis of central adrenal insufficiency in pediatric patients - preliminary results

Szczudlik Ewa , Wójcik Małgorzata , Stępniewska Anna , Januś Dominika , B. Starzyk Jerzy

The diagnosis of central adrenal insufficiency (CAI) is challenging. The most popular diagnostic tool in pediatric population remains low-dose (1 μg) cosyntropin (LDC) test. Nevertheless, there is still a need for the CAI markers that might be used on an outpatient setting as a first-line screening. In adult patients morning cortisol and dehydroepiandrosterone sulphate (DHEAS) has been postulated as a possible markers. The aim of the study was to evaluate the usefulness of ...

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hrp0095p1-417 | Adrenals and HPA Axis | ESPE2022

A patient with autoimmune polyglandular syndrome type 1 with atypical presentation

Bazdarska Yuliya , Yordanova Nikolinka , Hristozova Hristina , Krumova Darina , Iotova Violeta

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is &acy; rare multisystem disorder due to mutations in the autoimmune regulator gene (AIRE). APS-1 usually is characterized by a triad of hypoparathyroidism, primary adrenal insufficiency (PAI) and chronic mucocutaneous candidiasis. In the absence of the classic triad, the diagnosis becomes obscure and is often delayed.Case presentation: We report a 12 years ol...

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ESPE Abstracts

60th Annual ESPE (ESPE 2022)

BiosciAbstracts