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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Poster Presentations

Adrenals and HPA Axis P2

hrp0089p2-p001 | Adrenals and HPA Axis P2 | ESPE2018

Contribution of Direct Measurements of Steroids by Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS) in Non-classical Adrenal Hyperplasia (NCCAH)

Agnani Helena , Houang Muriel , Egether Thibaut , Netchine Irene , Lamaziere Antonin

Background: To diagnose non classical congenital adrenal hyperplasia (NCCAH) and adrenal insufficiency (AI), current guidelines recommend ACTH test. Cutoffs for 17 hydroxyprogesterone (17OHP) and cortisol are derived from immunoassays values. Thanks to a recently developed and validated mass spectrometry approach (LC-MS/MS) we routinely quantify simultaneously 16 circulating steroids and we are able to speculate on new cut off values and uses.<p class="abs...

hrp0089p2-p002 | Adrenals and HPA Axis P2 | ESPE2018

GnRH-analogue Treatment in Children with Congenital Adrenal Hyperplasia (CAH): Data from a Multicenter CAH Registry

Schreiner Felix , Rohayem Julia , Fricke-Otto Susanne , Golembowski Sven , Jorch Norbert , Schwab Karl Otfried , Warncke Katharina , Zanier Ulrike , on behalf of the German CAH Registry (DGKED-QS)

Background: Final height in patients with congenital adrenal hyperplasia (CAH) is generally assumed to be lower than the population norm. Besides CAH subtype and age at diagnosis, timing of pubertal development is considered to have a significant impact on final height. In most CAH patients, puberty starts within normal ranges, although at a somewhat earlier mean age compared to reference populations. CAH-complicating gonadotropin-dependent precocious puberty has been reported...

hrp0089p2-p003 | Adrenals and HPA Axis P2 | ESPE2018

Glucocorticoid Replacement Regimens in the Treatment of 21-hydroxylase Deficiency Congenital Adrenal Hyperplasia: A Systematic Cochrane Review

Ng Sze , Stepien Karolina

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition which leads to glucocorticoid deficiency. During childhood, the main aims of treatment are to prevent adrenal crisis and to achieve normal stature, optimal adult height and to undergo normal puberty. In adults, the aims of treatment are to prevent adrenal crisis, ensure normal fertility and to avoid long-term consequences of glucocorticoid use. Current treatment regimens for CAH with glucocort...

hrp0089p2-p004 | Adrenals and HPA Axis P2 | ESPE2018

Hydrocortisone (HC) Dose in Children with Congenital Adrenal Hyperplasia (CAH)

Hoyer-Kuhn Heike , Huebner Angela , Richter-Unruh Annette , Oeverink Rudolf , Bettendorf Markus , Rohrer Tilman , Kapelari Klaus , Roehl Friedrich-Wilhelm , Holl Reinhard , Woelfle Joachim , on behalf of the German CAH registry

Background: Recommendations for initial and maintenance dose of HC in CAH differ widely. However, treatment of CAH in young children is complicated by the lack of a suitable low-dose HC preparations.Methods: The German Society for Paediatric Endocrinology and Diabetology (DGKED) initiated a registry for patients with classical CAH (German CAH registry). Anonymized data are transferred for central analysis, including a validation step and a benchmarking r...

hrp0089p2-p005 | Adrenals and HPA Axis P2 | ESPE2018

Perioperative Care of CAH – Incongruencies of Practices among Canadian Specialists

Nour Munier , Gill Hardave , Mondal Prosanta , Inman Mark , Urmson Kristine

Introduction: In pediatric years, the most common cause of primary adrenal insufficiency is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Current Endocrine Society guidelines advocate for the use of perioperative supraphysiologic (often referred to as ‘stress dose’) glucocorticoids for children with primary adrenal insufficiency undergoing general anesthesia or surgery. We perceived a difference in practice patterns amongst pediatric subspeci...

hrp0089p2-p006 | Adrenals and HPA Axis P2 | ESPE2018

Analysis of Phenotypes and Genotypes in 84 Patients with 21-hydroxylase Deficiency

Hou Lele , Lin Shaofen , Meng Zhe , Ou Hui , Liu Zulin , Zhang Lina , Jiang Zhuannan , Liang Liyang

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

hrp0089p2-p007 | Adrenals and HPA Axis P2 | ESPE2018

Miscarriages in Families with a Child with Classic Congenital Adrenal Hyperplasia and 21-Hydroxylase Deficiency (CAH)

Penger Theresa , Hess Johannes , Marx Michaela , Oppelt Patricia , Dorr Helmuth-Gunther

Background: The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (CAH). In women with classic CAH, the fertility rate is lower than in the general female population, and an increased rate of miscarriages has been reported. There are no data on the incidence rate of miscarriages in families with an offspring that have classic CAH.Methods: The families came from different parts of Germany and attended the annual meeting of th...

hrp0089p2-p008 | Adrenals and HPA Axis P2 | ESPE2018

Testing Antiandrogens and Aromatase Inhibitors to Achieve Normal Growth in Children with Classical Congenital Adrenal Hyperplasia: A Systematic Review and Meta-analysis

Al Balwi Rana , Al Madani Wedad , Saad Rania , Ferwana Mazen

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease in which adrenal synthesis of glucocorticoids and mineralocorticoids is impaired and steroid biosynthesis is directed toward the formation of excessive androgens. Persistently high androgens will accelerate bone maturation and reduce final adult height.Objectives: To assess the efficacy of androgen antagonist Flutamide and aromatase inhibitor Tastolact...

hrp0089p2-p009 | Adrenals and HPA Axis P2 | ESPE2018

Phenotype-genotype Correlations of CYP21A2 Mutations in Patients with Congenital Adrenal Hyperplasia in Turkey

Simsek Enver , Binay Cigdem , Cilingir Oguz , Demiral Meliha , Hazer Ilhan , Artan Sevilhan

Background: Mutations in the 21-hydroxylase gene (CYP21A2) accounts for 90–95% of all congenital adrenal hyperplasia (CAH) cases. There is a strong relationship between genotype and disease severity.Objective: The aim of the study was to investigate the most frequent known mutations in CYP21A2 and to describe the genotype-phenotype correlation in Turkish children with CAH due to 21-hydroxylase deficiency.Methods: Based on clin...

hrp0089p2-p010 | Adrenals and HPA Axis P2 | ESPE2018

Hypoglycemic Crisis and Salt Loss in Children with Classic Congenital Adrenal Hyperplasia

Badalucco Simona , Meroni Silvia Laura Carla , Di Lascio Alessandra , Gianninoto Moira , Stancampiano Marianna Rita , Russo Gianni

Objective: Acute adrenal crisis is one of the main concerns in children with classic congenital adrenal hyperplasia (CAH). The aim of this study was to evaluate hypoglycemic and salt-wasting episodes in children with an established diagnosis of classic 21-hydroxylase deficiency (21-OHD) after start of treatment.Methods: A retrospective observational study was conducted for 85 patients with classic CAH (68 salt-wasting and 17 simple virilizing), aged 1 to...

hrp0089p2-p011 | Adrenals and HPA Axis P2 | ESPE2018

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38 935 Infants

Guran Tulay , Tezel Basak , Gurbuz Fatih , Eklioglu Beray Selver , Hatipoglu Nihal , Kara Cengiz , Sahin Nuran , Simsek Enver , Cizmecioglu Filiz Mine , Ozon Alev , Bas Firdevs , Aydin Murat , Ozdemir Gulsum , Darendeliler Feyza

Background: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. 21-hydroxylase enzyme deficiency (21-OHD) occurs in 90–95% of all cases of CAH. Despite it being a treatable condition, if unrecognized, CAH may present with life-threatening cardiovascular collapse. Mortality in the first years is reported to be higher than in the general population. Neonatal screening for CAH is effective in detecting the salt-wasting f...

hrp0089p2-p012 | Adrenals and HPA Axis P2 | ESPE2018

Autoantibodies Against 21-Hydroxylase in Prediction of Adrenal Failure in APECED Patients

Sozaeva Leila , Makazan Nadezhda , Nikankina Larisa , Kareva Maria , Orlova Elizaveta , Peterkova Valentina

Objectives: To investigate sensitivity, specificity and predictive values (PPV, NPP) of autoantibodies against 21-hydroxylase in APECED patients with and without adrenal insufficiency (AI) and in patients with other forms of AI.Methods: 42 patients with APECED and 24 patients with other forms of AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutations in AIRE gene and/or high levels of antibodie...

hrp0089p2-p013 | Adrenals and HPA Axis P2 | ESPE2018

A First Combination Case of 21-Hydroxilase Deficiency and CHARGE Syndrome Confirmed by Genetic Analysis

Kitamura Miyuki , Katoh-Fukui Yuko , Fukami Maki , Yatsuga Shuichi , Matsumoto Takako , Nishioka Junko , Koga Yasutoshi

Introduction: 21-hydroxilase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia. Mutations of CYP21A2 induces 21OHD, a rare autosomal recessive manner. CHARGE syndrome (CS) is a rare autosomal dominant manner that is typically caused by heterozygous chromodomain helicase DNA binding protein-7 (CHD7) mutations. Here, we report the combination cases with genetically diagnosing 21OHD and CS at the first time.Case:...

hrp0089p2-p014 | Adrenals and HPA Axis P2 | ESPE2018

Frequency of Enzyme Deficiencies in a Turkish Cohort of Congenital Adrenal Hyperplasia: A Single-Center Experience with 145 Patients

Yildiz Melek , Onal Hasan , Aydin Banu , Akgun Abdurrahman , Dogan Beyza Belde , Topal Neval , Akcay Teoman , Adal Erdal

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by a defect in any of the enzymatic steps of adrenal steroidogenesis. It occurs due to mutations in genes that encode enzymes involved in the synthesis of cortisol from cholesterol. The most common cause is 21-hydroxylase deficiency, with 11-beta hydroxylase, 3-beta hydroxysteroid dehydrogenase, 17-alpha hydroxylase and POR deficiency being among rarer causes.Objec...

hrp0089p2-p015 | Adrenals and HPA Axis P2 | ESPE2018

Study of Cardiovascular Risk Factors and Carotid Intima-Media Thickness in Children with Congenital Adrenal Hyperplasia

Elsayed Shaymaa , Emam Mohamed , El Fattah Magdy Abd , Gabal Ahmed Abou

Introduction: Congenital Adrenal Hyperplasia (CAH) is the commonest cause of Disorder of Sex development (DSD). It is a group of autosomal recessive disorders caused by deficiency of enzymes involved in synthesis of cortisol, aldosterone or both. The combination of hypocortisolism, hyperandrogenism and adrenal medullary hypofunction due to the disease and side effects of steroids treatment may make these individuals more prone to develop cardiovascular disorders including impa...

hrp0089p2-p016 | Adrenals and HPA Axis P2 | ESPE2018

The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis

Skordis Nicos , Fanis Pavlos , Toumba Meropi , Stylianou Charilaos , Picolos Michalis , Andreou Elena , Kyriakou Andreas , Yiannakide-Myli Lambrini , Iasonides Michalis , Nicolaou Stella , C Kyriakides Tassos , Tanteles George A , Neocleous Vassos , Phylactou Leonidas A

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is worldwide the most common autosomal recessive disorder caused by defects in the CYP21A2 gene.Objective: The main objective of the study was to evaluate CAH in Cyprus over a 10 year period.Methods: All known patients were included in a population retrospective subset analysis of Cypriot patients with confirmed CAH and their clinica...

hrp0089p2-p017 | Adrenals and HPA Axis P2 | ESPE2018

Childhood Growth Advancement in Girls with Premature Adrenarche Heralds Anabolic Effects by Adulthood

Liimatta Jani , Utriainen Pauliina , Laitinen Tomi , Voutilainen Raimo , Jaaskelainen Jarmo

Background and aim: Children with premature adrenarche (PA) have often tall stature, advanced bone maturation, and a tendency to be overweight. It has been speculated that PA may lead to unfavourable outcome, including obesity-related metabolic disturbances, but the data on long-term outcome of PA are insufficient. The aim of this work was to describe adult body composition in young females with a history of PA.Subjects and design: This prospective case-...

hrp0089p2-p018 | Adrenals and HPA Axis P2 | ESPE2018

A Novel Mutation in the MC2R Gene in a Two-year-old Boy with Adrenal Insufficiency

Al-Khawaga Sara , Hussain Khalid

Background: Melanocortin-2 receptor (MC2R) is a member of the G protein-coupled receptor family. MC2R is selectively activated by adrenocorticotropic hormone (ACTH); the binding of MC2R and ACTH activates the heterotrimeric G protein complex, and in turn stimulates steroidogenesis. Pathogenic variants in the MC2R gene result in glucocorticoid deficiency-1 (GCCD1), an autosomal recessive disorder in which unresponsiveness to ACTH leads to deficient secretion of cortisol and adr...

hrp0089p2-p019 | Adrenals and HPA Axis P2 | ESPE2018

Two Cases of Apparent Mineralocorticoid Excess due to Novel Mutations in HSD11B2 Gene

Makretskaya Nina , Kostrova Irina , Tiulpakov Anatoly

Background: Human HSD11B2 metabolizes active cortisol into cortisone and protects the mineralocorticoid receptor from glucocorticoid occupancy. Loss of function mutations in HSD11B2 gene cause a rare autosomal recessive disorder, apparent mineralocorticoid excess, resulting in low-renin hypertension and hypokalemia.Objective: We present 2 children with apparent mineralocorticoid excess. Case 1, a boy presenting at 11 yea...

hrp0089p2-p020 | Adrenals and HPA Axis P2 | ESPE2018

Long-term Follow-up of Safety and Disease Control for Hydrocortisone Granules Designed to give Age-appropriate Dosing with Taste Masking to Children with Adrenal Insufficiency

Neumann Uta , Braune Katarina , Whitaker Martin , Wiegand Susanna , Krude Heiko , Porter John , Digweed Dena , Voet Bernard , Ross Richard , Davies Madhu , Blankenstein Oliver

Context: Alkindi® (Hydrocortisone Granules, Diurnal Ltd, UK), was recently licensed for oral administration to children with adrenal insufficiency (AI) from birth to 18 years. Previously, children received compounded hydrocortisone to achieve age appropriate dosing, however almost 25% of batches were out of specification for mass and content uniformity and clinically evident under- and over-dosing was reported.Objectives: Primary: long-te...

hrp0089p2-p021 | Adrenals and HPA Axis P2 | ESPE2018

Borderline Peak Plasma Cortisol Following Synacthen Stimulation – Single-centre Analysis of Three Years Data

Burn Sarah , Colyer Sharon , Dimitri Paul , Wright Neil , Krone Nils , Elder Charlotte

Introduction: The Short Synacthen Test (SST) is the most popular diagnostic investigation of adrenal insufficiency (AI) worldwide. Symptoms of AI are frequently non-specific, often delaying diagnosis, however fortunately cases of adrenal crisis remain relatively rare. Diagnostic cut-offs for plasma cortisol on SST are controversial, made more complicated by modern assays and paediatric normative values extrapolated from adult data. Some advocate a division between biochemical ...

hrp0089p2-p022 | Adrenals and HPA Axis P2 | ESPE2018

Unilateral Adrenalectomy for Primary Pigmented Nodular Adrenocortical Disease Causing Cushing Syndrome

Higuchi Shinji , Kawakita Rie , Hosokawa Yuki , Yamada Yuki , Oyachi Maki , Matsumura Kana , Yorifuji Tohru

Background: Bilateral primary pigmented nodular adrenocortical disease (PPNAD) is one of the rare causes of Cushing syndrome, which has traditionally been treated by bilateral adrenalectomy. However, bilateral adrenalectomy mandates life-long adrenal hormone replacement and the patients remain at risk of adrenal failure for the rest of their lives. In adult patients with PPNAD, there have been a few reports of successful unilateral adrenalectomy. However, to our knowledge, the...

hrp0089p2-p023 | Adrenals and HPA Axis P2 | ESPE2018

Adrenal Crisis in Children with Adrenal Insufficiency: Prevalence and Risk Factors

Eyal Ori , Levin Yair , Oren Asaf , Zung Amnon , Rachmiel Marianna , Landau Zohar , Weintrob Naomi

Objectives: To assess the prevalence and risk factors of Adrenal crisis (AC) events in children with Adrenal insufficiency (AI) and to evaluate the effectiveness of the treatment for preventing AC.Methods: Children diagnosed with AI between 1990 and 2017 and treated with glucocorticoids at four pediatric endocrinology units in Israel were studied. Data were retrieved retrospectively from the patients’ files and they included demographic factors (age...

hrp0089p2-p024 | Adrenals and HPA Axis P2 | ESPE2018

The Effectiveness of a Stress-Management Intervention Program in Behavioral Parameters and Hair Cortisol Concentrations in Children with Attention Deficit Hyperactivity Disorder

Kapogiannis August , Makris Gerasimos , Mantzou Aimilia , Bachourou Theodora , Darviri Christina , Chrousos George , Pervanidou Panagiota

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurodevelopmental condition in school-aged children, with a prevalence of 5–8%. In individuals with ADHD, there is an attenuated biologic stress response to challenging situations.Objective: This study aimed at evaluating the effectiveness of an 8-week stress management program, comprising self-applied cognitive exercises, on stress perception and anxiety symptoms, sleep...

hrp0089p2-p025 | Adrenals and HPA Axis P2 | ESPE2018

Very High Dehydroepiandrosterone Sulfate (DHEAS) in Serum of an Overweight Female Adolescent without a Tumor

Iliev Daniel , Braun Regina , Sanchez-Guijo Alberto , Wudy Stefan , Heckmann Doreen , Bruchelt Gernot , Rosner Anika , Grosser Gary , Geyer Joachim , Binder Gerhard

Here, we report on a female adolescent with overweight and a very high DHEAS serum level. The hypothesis that the origin of DHEAS excess was the presence of either an ovarian or a suprarenal DHEAS-producing tumor was not confirmed. Sonographic and MRT investigations did not support its presence. In addition, effective dexamethasone suppression of DHEA and DHEAS excluded this diagnosis. Steroid sulfatase (STS) hydrolyses alkyl and aryl steroid sulfates to their unconjugated for...

hrp0089p2-p026 | Adrenals and HPA Axis P2 | ESPE2018

Early Recognition of Adrenal Insufficiency after Hematopoietic Stem Cell Transplantation During Childhood

Choi Yujung , Lee Seonhwa , ki Kim Seul , Lee Eun Kyoung , Shin Jung-Hyun , Ahn Moon Bae , Cho Won-Kyoung , Jung Min-Ho , Suh Byung-Kyu

Purpose: We try to analyze the prediction capacity of variable factors to diagnose adrenal insufficiency.Methods: We analyzed clinical and laboratory data of 22 children (Male =13) who have been checked regular dose ACTH stimulation test for suspected symptoms after HSCT (Lymphoid leukemia=5, Myeloid leukemia=9, Non-malignant=8) at the Catholic HSCT center from Feb 2013 to Feb 2017 at Seoul St. Mary’s Hospital. A normal response of ACTH stimulation ...

hrp0089p2-p027 | Adrenals and HPA Axis P2 | ESPE2018

Reference Values for Serum 17-alfa Hydroxyprogesterone and Adrenal Size in Healthy Newborns

Karaguzel Gulay , Eyuboğlu İlker , Ozdem Sebahat , Kader Şebnem , Kaya Serpil , Beyhun Ercument

Background and aims: The interpretation of serum 17α-hydroxyprogesterone (17OHP) results is difficult as age-related pediatric reference intervals are scant. The aim of this study is to determine the reference intervals for serum 17OHP according to sex and age groups in newborns. We also aimed to establish reference intervals for right and left adrenal gland sizes, and to evaluate the relation with adrenal size and serum 17OHP concentrations in newborns.<p class="abst...

hrp0089p2-p028 | Adrenals and HPA Axis P2 | ESPE2018

A Rare Case of ACTH-Independent Cushing’s Syndrome due to Bilateral Micronodular Adrenal Hyperplasia and Myoclonic Dystonia

Vasilakis Ioannis-Anargyros , Kazakou Paraskevi , Kogia Christina , Karaflou Maria , Chrousos George , Charmandari Evangelia

Background: ACTH-independent adrenal Cushing’s syndrome accounts for less than 15% of endogenous Cushing’s syndrome in children. We present a rare case of ACTH-independent adrenal Cushing’s syndrome, which was associated with myoclonic dystonia.Case presentation: A 12-year old girl was referred on account of rapid weight gain, fatigue, growth deceleration and facial hypertrichosis. She had a history of gait instability and ataxia till the ...

hrp0089p2-p029 | Adrenals and HPA Axis P2 | ESPE2018

Two Siblins and Three Cousins with Allgrove (4A) Syndrome in a Turkısh Family: A Novel Mutation in the ‘Aladin’ Gene

Akinci Aysehan , Dundar Ismail , Camtosun Emine , Kayas Leman

Allgrove’s or ‘4A syndrome’ is a rare autosomal recessive multisystem disorder characterised by adrenocorticotropin hormone resistant adrenal insufficiency,alacrima ,achalasia and neurological abnormalities. The disease-causing gene (AAAS) encodes a protein of 546 amino acids called ‘aladin’ (for alacrima-achalasia-adrenal insufficiency-neurologic disorder). We report two siblings and three cousins suffering from Allgrove syndrome in a Turkish family. ...

hrp0089p2-p030 | Adrenals and HPA Axis P2 | ESPE2018

Ganglioneuroma Presenting as an Adrenal Incidentaloma in a 10-year-old boy-a Rare Entity

Chawla Meghna , Deshpande Tushar

Background: Ganglioneuromas (GN) are rare benign tumours arising from the neural crest cells and it is equally rare to find them arising from the adrenal gland. We report a case of a 10-year old boy with an incidentally identified adrenal GN.Case report: A 10-year old boy had presented with the complaints of excessive weight gain noticed by the parents since the age of 2 years. There were no other complaints except for sleep apnea. A strong genetic histo...

hrp0089p2-p031 | Adrenals and HPA Axis P2 | ESPE2018

The Relationship Between Vitamin D Status and Metabolic Abnormalities in Females with Classical Congenital Adrenal Hyperplasia: A Pilot Study

Hassan Mona , Ibrahim Amany , Abdou Marise , Atty Sahar Abdel , Nabil Diana

Congenital adrenal hyperplasia (CAH) patients have a higher frequency of obesity, visceral adiposity, hyperinsulinism, insulin resistance and hyperandrogenism. There is increasing evidence that low vitamin D status is associated with impaired β-cell function, insulin resistance and impaired glucose tolerance.Objectives: This pilot aimed to determine the status of serum 25 (OH) D levels in CAH female patients who are followed up in Diabetes Endocrine...

hrp0089p2-p032 | Adrenals and HPA Axis P2 | ESPE2018

Adrenal Hypoplasia Seemingly First as a Primary Hypoaldosteronism

Iughetti Lorenzo , Lucaccioni Laura , Bruzzi Patrizia , Ciancia Silvia , Predieri Barbara , Roucher-Boulez Florence

Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insufficiency due to mutations in NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually presents in the first two months of life, but sometimes can appear later in childhood. Hypogonadotropic Hypogonadism is often associated later in life and all patients develop azoospermia. We describe an unusual onset of AHC started with ...

hrp0089p2-p033 | Adrenals and HPA Axis P2 | ESPE2018

Quantitative Ultrasound Evaluation in a Cohort of 43 Young Adults with Classical CAH due to 21-Hydroxylase Deficiency (21OHD): Is Bone Mineral Quality Impaired?

Baronio Federico , Balsamo Antonio , Ortolano Rita , Massaccesi Nicoletta , Bettocchi Ilaria , Zioutas Maximiliano , Maltoni Giulio , Zucchini Stefano , Cassio Alessandra

Background: In young adults patients (pts) with CAH due to 21OHD few and conflicting data have been reported on bone mineral quality (BMQ) evaluated by quantitative ultrasound (QUS).Objective and hypotheses: To evaluate the bone mineral status by QUS variables assessed at proximal phalanges of the hand in a cohort of young adults with classical CAH due to 21OHD and the possible associations with their clinical and metabolic features.<p class="abstext...

hrp0089p2-p034 | Adrenals and HPA Axis P2 | ESPE2018

Etiology of Primary Adrenal Insufficiency in Children: a 29-year Single Center Experience

Ma Huamei , Zhang Jun , Guo Song , Li Yanhong , Chen Hongshan , Chen Qiu , Du Minlian , Li Shaofu

Objective: To investigate the etiology and clinical features of Chinese children with PAI.Method: 427 children (age 0–18 years) with PAI followed at our institution between September 1989 and March 2016 were studied.Results: 1. 228 males and 199 female (1.14:1) were included. Median age at diagnosis was 1.66 (10th–90th, 0.06~8.73 yrs.2. An identified diagnosis(clinical or genetic) was obtained in 93...

hrp0089p2-p035 | Adrenals and HPA Axis P2 | ESPE2018

Pseudopubertas Praecox in a 4 Year Old Boy with Bilateral Atypical Adrenocortical Adenomas

Brichta Corinna , Wurm Michael , Hodde Franka , van der Werf-Grohmann Natascha , Schwab Karl Otfried

Introduction: Adrenocortical tumors are very rare in children, with a prevalence of just 0.3 cases/million/year. Autonomic hormone production by adrenal cortical tumors may cause peripheral precocious puberty.Case report: A 4-year-old boy was presented by his parents because of pubertal behavior with aggressive features and a significant increase in the size of the penis. The parents also noticed a strong growth spurt and sweat odor. The boy had a good g...