Adrenals and HPA Axis

hrp0097p1-1 | Adrenals and HPA Axis | ESPE2023

Circulating miRNA profile in adrenarche

Liimatta Jani , Murat Altinkilic Emre , Raitoharju Emma , Nicholson Pamela , Jääskeläinen Jarmo , Lakka Timo , Flück Christa

The physiology of adrenarche, i.e. the development of the zona reticularis of the adrenal cortex, is mostly unknow. Some genes of steroidogenic enzymes need to be down- (HSD3B2) while others upregulated (e.g. CYB5) to enhance androgen production in zona reticularis, but it is not known how this is regulated. Micro RNAs (miRNAs) are small non-coding RNAs that can affect gene expression at posttranscriptional level. We hypothesized that miRNAs might be involved in regulating adr...

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hrp0097p1-2 | Adrenals and HPA Axis | ESPE2023

Metabolic effects of cortisol insufficiency are sex-depended in a zebrafish model of 21-hydroxylase deficiency

Bacila Irina , Oberski Lara , Cunliffe Vincent , Krone Nils

Background: Patients with 21-hydroxylase deficiency (21OHD) require life-long glucocorticoid (GC) replacement and have high prevalence of metabolic disease. Our previous work using a zebrafish model of 21OHD (cyp21a2-/-) showed that cortisol-deficient adults were fertile and had normal external sex characteristics, however, they had large body size and increased subcutaneous and visceral fat deposition compared to wild-types. Unlike human 21OHD, they ...

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hrp0097p1-3 | Adrenals and HPA Axis | ESPE2023

Acute Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia (CAH): Changes During The Period 2019-2022 In I-CAH

Tseretopoulou Xanthippi , R Ali Salma , Bryce Jillian , Amin Nadia , Atapattu Navoda , Bachega Tania , Baronio Federico , H Birkebaek Niels , Bonfig Walter , H Davies Justin , Thomas Tessy , de Vries Liat , Elsedfy Heba , Hussein Amr Nermine , E. Flueck Christa , Globa Evgenia , Zelinska Natalia , Guran Tulay , Yavas Abali Zehra , Guven Ayla , E. Hannema Sabine , Iotova Violeta , Konrad Daniel , P. Krone Nils , Lenherr-Taube Nina , Leka-Emiris Sofia , Vlachopapadopoulou Elpis , R. Lichiardopol Corina , Marginean Otilia , L. Markosyan Renata , Niedziela Marek , Banaszak-Ziemska Magdalena , Neumann Uta , Phan-Hug Franziska , Polyrazoglu Sukran , Probst Ursina , Randell Tabitha , Russo Gianni , Salerno Mariacarolina , Shnorhavorian Margarett , van Eck Judith , Vieites Ana , Wasniewska Malgorzata , F Ahmed Syed

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compare it ...

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hrp0097p1-4 | Adrenals and HPA Axis | ESPE2023

Major importance of genetic background in cortisol metabolism: Salivary diurnal glucocorticoid profiles in monozygotic twins with intra-twin birthweight-differences

Schulte Sandra , Eberhardt Nora , Roedig Thea , Schreiner Felix , Plamper Michaela , Bartmann Peter , Holterhus Paul-Martin , Kulle Alexandra , Gohlke Bettina

Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on glucocorticoid metabolism. We studied monozygotic twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw and catch-up growth on glucocorticoid metabolism.Methods: 46 monozygotic prepubertal twin-pai...

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hrp0097p1-5 | Adrenals and HPA Axis | ESPE2023

Glucose profiles of children with classical congenital adrenal hyperplasia: lesson from continuous glucose monitoring

Nguyen Quoc Adrien , Galderisi Alfonso , Kariyawasam Dulanjalee , Stoupa Athanasia , Pinto Graziella , Viaud Magali , Brabant Severine , Beltrand Jacques , Polak Michel , Samara-Boustani Dinane

Background: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia in CAH. We explored the glucose profile of children with classical CAH by the use of continuous glucose monitoring (CGM).Methods: We conducted an observational study in children aged 1-6 years with a dia...

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hrp0097p1-6 | Adrenals and HPA Axis | ESPE2023

A retrospective analysis of children and youth with congenital adrenal hyperplasia treated with hydrocortisone modified-release hard capsules

Neumann Uta , von Mackensen Jolande , Lankes Erwin , Blankenstein Oliver

Context: Children with congenital adrenal hyperplasia (CAH) require hydrocortisone replacement from birth. The highest ACTH driven endogenous production of androgens happens in the early morning. To achieve a good therapy control, immediate release hydrocortisone is given early in the morning or late at night. In year 2021 the hydrocortisone modified-release hard capsule (Efmody®) was approved by the European medicine agency and from September 2021 it is l...

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hrp0097p1-7 | Adrenals and HPA Axis | ESPE2023

The process of knowledge-making with a patient encounter – from education to negotiation of the way of treatment in patients with congenital adrenal hyperplasia (CAH).

M. Kucharska Anna , Radkowska-Walkowicz Magdalena

Introduction: CAH is a chronic inherited disease which needs the treatment for the whole life. This situation forms the necessity of a proper patient- doctor relations: not only compliance, but rather informed cooperation. The neonatal screening for CAH allowing the early diagnosis and treatment and availability of internet sources of professional knowledge is the new challenge in the way of education of patients. In Poland there is still observed the dominanc...

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hrp0097p1-8 | Adrenals and HPA Axis | ESPE2023

Congenital Adrenal Hyperplasia (CAH): Situation and Possibility to Develop a Newborn Screening in Indonesia -- An Exploratory Study

Pulungan Aman , Armstrong Kate , Fadiana Ghaisani , Idaayen Fatima , Waladhiyaputri Vahira , Patricia Chandra Angelina , Fadia Ratnasari Amajida , Arnetta Puteri Helena , Utari Agustini

Introduction: Indonesia, an archipelago with approximately 17,000 islands and 34 provinces has around 4.8 million babies born annually, yet only 2-3% undergo newborn screening (NBS) resulting in high preventable disease burdens. Currently, the country only has 1 newborn screening project which will be relaunched and aimed to cover 30-40% of babies. Health policy plays a huge role in determining the day-to-day lives of children, families, and health professiona...

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hrp0097p1-9 | Adrenals and HPA Axis | ESPE2023

The @MATES4Kids Movement: Reducing Preventable Mortality Associated with Congenital Adrenal Hyperplasia (CAH) by 30% by 2030

Armstrong Kate , Auste Carmen , Calzada León Raúl , Chanoine Jean-Pierre , L. Claahsen Hedi , E. Craig Maria , Deeb Asma , Yazid Jalaludin Muhammad , Matos Dina , Mayrdorfer-Muhr Marika , Meschede Johanna , Pulungan Aman , N. Seneviratne Sumudu , E.J. Stafford Diane , Duran Ventura Paola , K. Boddu Sirisha , Atapattu Navoda , Raza Jamal , Ibrahim Mohsina , Musa Salwa

Background: Children living with paediatric endocrine conditions in resource-poor countries experience inequitable rates of preventable mortality and morbidity. Reducing preventable mortality will help member states committed to delivering on the United Nations’ Sustainable Development Goals 3.2.1, 3.2.2 and 3.4. CLAN (Caring & Living As Neighbours) has been improving health outcomes for children living with CAH in resource poor countries since 2004,...

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hrp0097p1-10 | Adrenals and HPA Axis | ESPE2023

Endocrinological, genetic and immunological features of a long-term survivor with MIRAGE syndrome

Furuzono Miwa , Makimura Mika , Miyako Kenichi , Tanase-Nakao Kanako , Narumi Satoshi , Hagiwara Hidetoshi , Mitsui-Sekinaka Kanako , Moriya Kunihiko , Imai Kohsuke

MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy. It was established in 2016 as a new syndromic disorder caused by a gain-of-function mutation in the SAMD9 gene, which encodes a protein that suppresses cell proliferation. Due to the poor life prognosis, there are few reports on the long-term survival. Therefore, we herein report the clinical course of a 24-year-old male patient...

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hrp0097p1-11 | Adrenals and HPA Axis | ESPE2023

Girls with Premature Adrenarche but not SGA Reach Their Target Height

Bingöl Aydın Dilek , Tin Oğuzhan , Turan Hande , Bayramoğlu Elvan , Ercan Oya , Evliyaoğlu Olcay

Introduction:Premature adrenarche (PA) is the most common cause of premature pubic and axillary hair growth before the age of 8 in girls. At the time of diagnosis, the height and bone age of the cases with premature adrenarche were determined to be higher than their peers. The long-term effects of advanced bone age on the final length of the cases are controversial. In this study, it is aimed to share the long-term follow-up data of the cases diagnosed with pr...

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hrp0097p1-12 | Adrenals and HPA Axis | ESPE2023

Growth and Metabolic Syndrome (MetS) Criteria in children with Classic Congenital Adrenal Hyperplasia (CAH) treated with corticosteroids (CS) versus normal obese children.

Shayma El Sayed , Ashraf Soliman , Noor Hamed , Shayma Ahmed , Fawzia Alyafei , Nada Alaaraj

Introduction: Management of CAH presents unique challenges distinct from other forms of adrenal insufficiency. Higher doses of glucocorticoids are required to suppress adrenal androgen synthesis, which can lead to overtreatment. Steroid-associated adverse events (SAAE) include hypertension, hyperglycemia, and diabetes, overweight and obesity and short stature.Aim: The goal of this study was to assess the occurrence of st...

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hrp0097p1-13 | Adrenals and HPA Axis | ESPE2023

Epidemiology and causes of primary adrenal insufficiency in children: A population-based study

Borchers Joonatan , Pukkala Eero , Mäkitie Outi , Laakso Saila

Objective: Incidence and causes of primary adrenal insufficiency (PAI) have not been comprehensively studied in children. Our objective was to describe the epidemiology and to assess national causes of PAI in children.Design: A national population-based descriptive study of PAI in patients aged 0-20 years.Methods: Diagnoses referring to adrenal insufficiency in children born in 199...

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hrp0097p1-14 | Adrenals and HPA Axis | ESPE2023

Use of Aromatase inhibitors to improve height outcomes in children with Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency

Balagamage Chamila , Cheethum Tim , Idkowiak Jan , Krone Nils , Krone Ruth

Key Words: Congenital Adrenal Hyperplasia, Advanced bone age, Aromatase inhibitors, Predicted Adult HeightIntroduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is characterized by cortisol and mineralocorticoid deficiency with excess adrenal androgen production. Standard treatment includes glucocorticoid and mineralocorticoid replacement. Slightly supraphysiological glucocorticoid r...

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hrp0097p1-15 | Adrenals and HPA Axis | ESPE2023

Abstract unavailable...

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hrp0097p1-200 | Adrenals and HPA Axis | ESPE2023

Evaluation of chromatin remodeling factors ATRX and DAXX and telomeres in pediatric adrenocortical tumors.

F Stecchini Monica , Carolina Bueno Ana , R de Campos Mateus , Marrero-Gutiérrez Junier , A Cardinalli Izilda , Junqueira Tais , A Scridelli Carlos , AF Molina Carlos , Tucci Silvio , B Coeli-Lacchini Fernanda , C Moreira Ayrton , S Ramalho Fernando , NZ Ramalho Leandra , R Brandalise Silvia , A Yunes Jose , Chahud Fernando , ZN Vêncio Ricardo , de Castro Margaret , R Antonini Sonir

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...

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hrp0097p1-201 | Adrenals and HPA Axis | ESPE2023

Molecular characterization of TNXA/TNXB chimeras in cases carrying deletion of the CYP21A2 gene: High incidence of chimeras identified.

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

Introduction: CAH-X syndrome refers to a subset of Congenital adrenal hyperplasia (CAH) patients who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) due to the monoallelic/biallelic presence of a CYP21A2 deletion extending into the TNXB gene (chimeric TNXA/TNXB gene). To date, three different TNXA/TNXB chimeras have been described, CH-1 (presence of a TNXA-derived 120bp deletion in exon 35 of the <...

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hrp0097p1-202 | Adrenals and HPA Axis | ESPE2023

Increased adiposity and insulin resistance negatively affect growth in pre-pubertal heterozygote carriers of 21-Hydroxylase deficiency

Mascioli Ilaria , Mastromauro Concetta , Lauriola Federico , Chiarelli Francesco , Mohn Angelika , Giannini Cosimo

Introduction: 21-Hydroxylase deficiency (21-OHD) is the archetype of congenital adrenal hyperplasia (CAH). Deficiency of 21-Hydroxylase results in an impairment of cortisol synthesis, which is critical in stressful conditions when higher output is required to restore homeostasis. In addition, an increased androgen production, might results in undesirable manifestations of hyperandrogenism, as menstrual abnormalities, infertility and cosmetic annoyances and gro...

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hrp0097p1-203 | Adrenals and HPA Axis | ESPE2023

Adrenal insufficiency due to bioinactive ACTH caused by novel POMC variants

Illiano Sara , Vasaturo Sara , Andolfo Immacolata , Russo Roberta , Di Mase Raffaella , Moracas Cristina , Salerno Mariacarolina , Capalbo Donatella

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by ACTH-resistant isolated cortisol deficiency. FGD usually presents with hypoglycemia, convulsions, prolonged jaundice, and marked skin hyperpigmentation in the early period of life. Several defects in MC2R, MRAP, MCM4, NNT, and TXNRD2 genes are related to FGD. In all these situations, plasma ACTH is high. By contrast, all reported cases of glucocorticoi...

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hrp0097p1-204 | Adrenals and HPA Axis | ESPE2023

Longitudinal Changes in Serum DLK1 Concentrations During Minipuberty in Healthy Infant Girls; Association to Changes in Linear Growth and Fat Mass

Vilmann Lea , Siegfried Busch Alexander , Lindhardt Ljubicic Marie , N. Upners Emmie , Bistrup Fischer Margit , P. Hagen Casper , Juul Anders

Background: Growth in infancy is considered primarily to be regulated by nutrition and insulin, whereas less is known about the influence of IGF-I, reproductive hormones and other factors of importance. Recently, paternally inherited genetic defects of DLK1 (Delta-like 1 homolog) were found in girls with central precocious puberty (CPP) with a metabolic phenotype. In addition, low maternal serum DLK1 concentrations were significantly lower in pregnant women wh...

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hrp0097p1-205 | Adrenals and HPA Axis | ESPE2023

Effects of hyperandrogenism on psychological perception and quality of life in patients with non-classical congenital adrenal hyperplasia

Karamfilova Teodora , Galcheva Sonya , Bocheva Yana , Iotova Violeta

Background: Non-classical congenital adrenal hyperplasia (NCCAH) is a hyperandrogenic disorder affecting negatively the psychological health and the quality of life (QoL) of patients.Aim: To evaluate the psychological health and QoL in female NCCAH patients in comparison to female age-matched healthy controls.Participants and Methods: A total of sixty-eight females, aged 10-27 year...

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hrp0097p1-206 | Adrenals and HPA Axis | ESPE2023

Adrenal insufficiency is not a common cause of hypoglycemia in children

Gil Margolis Merav , Lilos Pearl , Phillip Moshe , de Vries Liat

Background: Hypoglycemia etiology in children is heterogeneous and varies by age. Both growth hormone (GH) and cortisol deficiencies may present with hypoglycemia; the latter may result in an adrenal crisis that may be fatal.Objectives: To evaluate responses of cortisol and GH to spontaneous hypoglycemia in infants and children, and to assess the rate of true cortisol deficiency in children, defined as cortisol<500 nm...

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hrp0097p1-207 | Adrenals and HPA Axis | ESPE2023

Health-Related Quality of Life in Children with Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Seneviratne Sumudu , Gunawardena Shamaali , Jayarajah Umesh , Ahmed Faisal

Introduction: Congenital adrenal hyperplasia (CAH) is a lifelong condition associated with long term medical and psychosocial issues, which can adversely affect Quality of Life (QoL). There is paucity of high-grade evidence on health-related QoL in children and adolescents with CAH, with available studies being limited by small study samples. We conducted a systematic-review(SR) and meta-analysis(MA) to assess factors associated with health-related QoL among c...

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hrp0097p1-208 | Adrenals and HPA Axis | ESPE2023

Genotype-Specific Cortisol Reserve in a Cohort of Subjects with Non-Classic Congenital Adrenal Hyperplasia (NCCAH)

koren Ilana , Segev-Becker Anat , Kabash Rebeca , Magdoub Hussein , Stein Nili , Weintrob Naomi

Background: Recent guidelines suggest that NCCAH subjects stop their glucocorticoid therapy after achieving adult height. However, these guidelines do not differentiate between genotype groups within the NCCAH population.Aim: Compare ACTH stimulated cortisol and 17-hydroxyprogesterone (17OHP) levels, and the rate of partial cortisol insufficiency in NCCAH subjects carrying one mild and one severe (mild/severe) mutation v...

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hrp0097p1-209 | Adrenals and HPA Axis | ESPE2023

Successful transition in Congenital Adrenal Hyperplasia - A single centre experience over 20 years

Kiewert Cordula , Jedanowski Julia , P. Hauffa Berthold , Petersenn Stephan , Führer Dagmar , Unger Nicole

Introduction: Transition medicine aims at the coordinated transfer of young patients with a chronic disease from paediatric to adult specialist care. The present study reflects 20 years of experience in transitioning patients with congenital adrenal hyperplasia (CAH) in a single centre university setting.Methods: The endocrine transition clinic was established in 2002 and offers joint consultations with a paediatric and ...

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hrp0097p1-210 | Adrenals and HPA Axis | ESPE2023

Change of Thyroid Volume in the Treatment of Congenital Primary Hypothyroidism

Yilmaz Yunuscan , Cetinkaya Semra , muratoglu sahin nursel

Object&idot;ves: In congenital primary hypothyroidism, the effect of treatment on thyroid volume is not known. In this study, the change in thyroid volume according to etiology and its effect on treatment discontinuation rates in the treatment of congenital primary hypothyroidism were investigated.Mater&idot;als and Methods: The clinical features and thyroid ultrasonography findings at the time of diagnosis and at the ag...

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hrp0097p1-211 | Adrenals and HPA Axis | ESPE2023

Salivary 11-oxygenated 19-carbon steroids in children with congenital adrenal hyperplasia and Addison's disease compared to healthy children

Park Julie , Hawcutt Daniel , Shantsila Alena , Bright Orla , Dliso Silothabo , Lip Gregory , Blair Joanne

Background: 11-oxygenated 19-carbon (11oxC19) steroids, 11ketotestosterone (11KT) and 11βhydroxyandrostenedione(11OHA4) are adrenally derived steroids that rise in congenital adrenal hyperplasia (CAH). Increased 11oxC19 concentrations are associated with markers of poor control of CAH. To date, 11oxC19 concentrations have not been measured in patients with Addison’s disease (AD).Methods: Children with primary ...

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hrp0097p1-212 | Adrenals and HPA Axis | ESPE2023

Features of allel variants of congenital adrenal hyperplasia in kazakhstan children of different ethnic groups

Bazarbekova Rimma , Ermakhanova Tamara

Background: More than 90% of cases of congenital adrenal hyperplasia (CAH) are associated with the occurrence of mutations in the CYP21A2 gene encoding 21-hydroxylase. The level of residual activity of 21-hydroxylase determines the clinical form and severity of the disease.Aim: To study the distribution of allelic variants of CAH due to 21-hydroxylase deficiency in different ethnic groups of Kazakhstani children.<p c...

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hrp0097p1-399 | Adrenals and HPA Axis | ESPE2023

Transcriptome profiling evaluation of pediatric adrenocortical tumors (pACT) reveals a favorable-prognosis transcription signature and potential therapeutic targets.

Carolina Bueno Ana , Milton P da Silva Jr Rui , F Stecchini Mônica , Marrero-Gutiérrez Junier , A Cardinalli Izilda , Junqueira Tais , A Scrideli Carlos , AF Molina Carlos , Tucci Silvio , B Coeli-Lacchini Fernanda , C Moreira Ayrton , NZ Ramalho Leandra , R Brandalise Silvia , A Yunes Jose , ZN Vêncio Ricardo , de Castro Margaret , R Antonini Sonir

Aim: To uncover a feasible tumor expression prognostic signature and potential therapeutic targets for children with pACT.Methods: Tumor RNAseq from 53 pACT children (70% girls, median age: 1.7yrs) was performed (Illumina). Using a robust, state-of-the-art, differential gene expression analysis pipeline, differentially expressed genes (DEGs: adjusted P<0.05 and |log2 fold-change|>1) were identified (DESeq2...

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hrp0097p1-400 | Adrenals and HPA Axis | ESPE2023

11-oxygenated androgens as biomarkers in congenital adrenal hyperplasia: reference intervals for children

P.H. Adriaansen Bas , oude-Alink Sandra , W. Swinkels Dorine , A.M. Schröder Mariska , N. Span Paul , C.G.J. Sweep Fred , L. Claahsen - van der Grinten Hedi , E. van Herwaarden Antonius

Background: Patients with congenital adrenal hyperplasia (CAH) might suffer from hyperandrogenism. For diagnosing and treatment monitoring, usually levels of androstenedione (A4) and testosterone (T) are measured in blood. More recently, adrenal-specific 11-oxygenated androgens such as 11- hydroxyandrostenedione (11OHA4), 11-ketoandrostenedione (11KA4), 11-hydroxytestosterone (11OHT), and 11-ketotestosterone (11KT) were introduced as promising biomarkers, but ...

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hrp0097p1-401 | Adrenals and HPA Axis | ESPE2023

Impact of Newborn Screening for Congenital Adrenal Hyperplasia (CAH) on Adult Height: Data from the CAH Registry of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED).

Hoyer-Kuhn Heike , Eckert Alexander , Binder Gerhard , Bonfig Walter , Dübbers Angelika , Mohnike Klaus , Riedl Stefan , Wölfle Joachim , G Dörr Helmut , W Holl Reinhard

Objective: The treatment of children with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a challenge since both undertreatment and overtreatment with glucocorticoids can affect growth. Numerous reports in the literature have shown that the linear growth of individuals with CAH is affected and adult height is compromised. However, most of these data were obtained in the era before CAH newborn screening....

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hrp0097p1-402 | Adrenals and HPA Axis | ESPE2023

Micronodular bilateral adrenal hyperplasia: about 2 cases in early childhood

Lambert Sophie , A Stratakis Constantin , Chivu Olimpia , Boros Emese , Heinrichs Claudine , Ulgiati Fiorenza , Brachet Cécile

Background: Micronodular bilateral adrenal hyperplasia (MiBAH) is a rare cause of adrenal Cushing syndrome (CS) that may be subdivided in two main entities: primary pigmented nodular adrenocortical disease (PPNAD) and isolated micronodular adrenocortical disease (i-MAD). The most common presentation of MiBAH is familial PPNAD as part of Carney complex (CNC). The underlying genetic defect in most forms of PPNAD is inactivating germline mutations of the PRKAR1A ...

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hrp0097p1-403 | Adrenals and HPA Axis | ESPE2023

Pediatric Cushing`s disease due to somatic USP8 mutations

Yanar Eda , Kareva Maria , Kolodkina Anna , Antysheva Zoia , Bogdanov Victor , Peterkova Valentina

Objective: Somatic mutations in the USP8 gene were discovered as the most common genetic defects in corticotropinomas with a frequency of 30 to 60% in adult patients. With regard to pediatric patients, establishing prevalence of USP8 mutations is still challenging due to the rarity of CD incidence in childhood.Aim: To determine the frequency of somatic genetic drivers of CD in a cohort of pediatric patients.<p class=...

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hrp0097p1-404 | Adrenals and HPA Axis | ESPE2023

Nephrocalcinosis: an emerging issue in children with Congenital Adrenal Hyperplasia

Chiarito Mariangela , Lattanzio Crescenza , D'Ascanio Vito , Capalbo Donatella , Cavarzere Paolo , Grandone Anna , Luongo Caterina , Pepe Giorgia , Wasniewska Malgorzata , Zoller Thomas , Salerno Mariacarolina , Felicia Faienza Maria

Hypercalcemia and nephrocalcinosis (NC) are rare findings associated with congenital adrenal hyperplasia (CAH), whose pathogenetic mechanisms are still unclear. In this study we aimed to investigate the prevalence of NC in a cohort of Italian children affected with classical form of CAH, and to correlate its association with metabolic control of the disease.Subjects and Methods: This is a multicenter one year-perspective study involving ...

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hrp0097p1-405 | Adrenals and HPA Axis | ESPE2023

Multicenter study on clinical, biochemical and ultrasonographic characteristics, therapeutic management and outcome of TART in males with congenital adrenal hyperplasia.

Corica Domenico , Baronio Federico , Janus Dominika , Russo Gianni , Ortolano Rita , Starzyk Jerzy , Rita Stancampiano Marianna , Salerno Mariacarolina , Felicia Faienza Maria , Grandone Anna , Curatola Selenia , Capalbo Donatella , Wasniewska Malgorzata

Objectives: 1. To describe the clinical, biochemical and testicular ultrasonographic features in a population of males with congenital adrenal hyperplasia (CAH) and Testicular Adrenal Rest Tumor (TART). 2. To identify factors related to the onset of TART. 3. To evaluate the therapeutic management and outcome of TART.Methods: Males with classic and non-classic 21β-hydroxylase-deficient CAH, diagnosed with TART, follo...

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hrp0097p1-406 | Adrenals and HPA Axis | ESPE2023

Congenital adrenal hyperplasia due to 11 β-hydroxylase deficiency: Clinical, Biochemical and Genetic characteristics

Ladjouze Asmahane , Mohammedi kahina , Demdoum Mohamed , Boulesnane Kamelia , Aboura Rawda , Melzi Souhila , Bouhafs Nadjet , Donaldson Malcolm , Janot Clément , Mallet Delphine , Bouzerar Zair , Roucher-Boulez Florence

Background: Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1 (gene encoding 11β-hydroxylase), is a rare autosomal recessive disorder due to an impairment of the last steroidogenesis step. Consequences are a decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors responsible of hyperandrogenism and hypertension. It is the second most frequent cause of CAH after 21-Hydroxylase de...

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hrp0097p1-407 | Adrenals and HPA Axis | ESPE2023

17OHP levels to diagnose Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (NC-CAH) in children with precocious pubarche

Chagas Nathália , Aragon Davi , Mermejo Livia , de Castro Margaret , Moreira Ayrton , Antonini Sonir

Background: Basal 17OHP levels to indicate an ACTH-stimulation test and post-ACTH 17OHP cut-off levels diagnosing NC-CAH vary among different guidelines.Objective: To establish the performance of basal and post-ACTH 17OHP concentrations for the NC-CAH diagnosis in children with precocious pubarche (PP).Methods: Clinical, biochemical, and molecular analysis from 202 PP patients subm...

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hrp0097p1-408 | Adrenals and HPA Axis | ESPE2023

Primary Adrenal Insufficiency in Children: Genetic and Clinical Characterization of a Large Cohort in Thailand

Chaisiwamongkol Ratikorn , Kwanyuen Thamakorn , Tantirukdham Nithiphut , Yeetong Patra , Shotelersuk Vorasuk , Sahakitrungruang Taninee

Background: Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. Its diagnosis is frequently delayed due to its nonspecific and diverse symptoms. The etiology of PAI is heterogeneous and varies among populations.Objective: The objective of this study was to characterize the clinical and hormonal phenotypes of Thai children with PAI and to determine the underlying genetic defects.<p class="abs...

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hrp0097p1-409 | Adrenals and HPA Axis | ESPE2023

Hydrocortisone (HC) versus Prednisone(P) Therapy in treating Children with Classic Congenital Adrenal Hyperplasia (CAH): Impact on statural growth weight gain and metabolic criteria

El Sayed Shayma , Soliman Ashraf , Hamed Noor , Ahmed Shayma , Alyafei Fawzia , Alaaraj Nada

Introduction: Debate still exists about the safety of long-term use of prednisone (P) versus hydrocortisone (HC) for treating children with congenital adrenal hyperplasia -21OH D (CAH).Aim: To investigate the linear growth and weigh gain as well as metabolic component in children with CAH who were treated with either HC or P since early infancy for 5 years or more.Methods: Data of ...

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hrp0097p1-410 | Adrenals and HPA Axis | ESPE2023

Patient education for management of sick day episodes in adrenal insufficiency: A systematic review of structured education and online patient resources

Bradford Anna , Mason Avril , Choong Wong Sze

Background: Management of adrenal insufficiency(AI) during sick-day episodes require adjustment of oral glucocorticoid therapy or administration of intramuscular injection to prevent adrenal crisis. Education of families of a young person with AI on management during sick day episode is therefore critical.Aim: To critically appraise patient education of sick-day episode management of adrenal insufficiency by conducting</...

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ESPE Abstracts

61st Annual ESPE (ESPE 2023)

BiosciAbstracts