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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 3

Adrenals and HPA Axis

hrp0092p3-1 | Adrenals and HPA Axis | ESPE2019

A Case of Cushing Syndrome in a Wilms' Tumour

Lim Yvonne Yijuan , Sng Andrew Anjian , BH Ng Nicholas , Ho Wei-li Cindy , Loke Kah-yin , Lee Yung-seng

Paraneoplastic Cushing syndrome is extremely rare. To date, there are few reported cases related to Wilms' tumor. We describe a patient who presented with Cushing syndrome and was subsequently found to have Wilms' tumor. Our patient is a 9 year-old boy, who presented with hyperphagia and excessive weight gain for 3 months. His abdomen was also progressively bigger. There was no ingestion of steroids or traditional medication. Subsequently he sought medical advice becau...

hrp0092p3-2 | Adrenals and HPA Axis | ESPE2019

A Rare Cause of Primer Adrenal Insufficiency: NROB1 (DAX1) Mutation

Koprulu Ozge , Acar Sezer , Nalbantoglu Ozlem , Kirbiyik Ozgur , Arslan Gulcin , Ozkaya Beyhan , Ozdemir Taha Resid , Ozkan Behzat

Introduction: Congenital adrenal hypoplasia, a rare cause of childhood primer adrenal insufficiency, is caused by defects in transcription factors involved in the development of adrenal gland. One of them is the NROB1 (DAX1) gene, localized in Xp21.2. DAX1 mutations have been identified that cause X-linked adrenal hypoplasia congenita. Infants affected with X-linked adrenal hypoplasia congenita may present with salt-wasting, micropenis or cry...

hrp0092p3-3 | Adrenals and HPA Axis | ESPE2019

A 46, XX Patient with 21-OHD Diagnosed During the Etiologic Workup of Male Infertility

Buğrul Fuat , Yildirak Ekrem , Güran Tülay

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of the steroid biosynthesis. 21-hydroxylase deficiency (21-OHD) represents 90–95% of CAH patients and causes adrenal insufficiency and virilization. Although most patients are diagnosed in childhood, the diagnosis of some classical CAH cases are extremely delayed up to sixth and seventh decades of life. Herein, we report a 46, XX patient with 21-OHD diagnose...

hrp0092p3-4 | Adrenals and HPA Axis | ESPE2019

A Female Infant with Severe Salt-Wasting due to Aldosterone Synthase Deficiency, Initially Mimicking Adrenal Insufficiency

Krull Simone , Kamrath Clemens , Schulze Egbert , Giatropoulou Sofia , Wudy Stefan

Background: Correct diagnosis of the etiology of adrenal deficiencies is essential for appropriate treatment.Case report: At the 12th day of life, the girl had suffered an episode of severe salt wasting with marked hyponatremia (109 mmol/l) and hyperkalemia (6.9 mmol/l). Under the assumption of adrenal insufficiency therapy with hydrocortisone and fludrocortisone as well as salt had been started. Unfortunately...

hrp0092p3-5 | Adrenals and HPA Axis | ESPE2019

Can Early Prenatal Prednisone Treatment Reduce Virilization of CAH Female Newborn?

Sauna Alessandra , Timpanaro Tiziana , Panebianco Valeria , Caruso-Nicoletti Manuela

A female second born of unrelated parents, at fourth pregnancy, born by vaginal delivery at 39 weeks of gestational age, weight 3145 g (-0.45 SDS), length 50 cm (0.12 SDS), head circumference 33 cm (-0.82 SDS), presented with DSD. The mother affected by hypothyroidism and autoimmune hepatitis, during the whole pregnancy was treated with levothyroxine and prednisone at the dose of 5 mg/day. At birth mild ambiguous genitalia (Prader stages I-II) were noticed and the baby was adm...

hrp0092p3-6 | Adrenals and HPA Axis | ESPE2019

Clinical Characteristics and Etiological Diagnosis of Premature Pubarche Among 55 Children

MA Huamei , LIN Juan , ZHANG Jun , LI Yanhong , CHEN Qiuli , CHEN Hongshan , GUO Song , DU Minlian

Objective: To understand the clinical characteristics, etiological distribution and related metabolic problems of children with premature pubarche.Methods: The clinical data of 55 cases of premature pubarche were summarized. All the children were tested by ACTH stimulation test and GnRHa stimulation test, of which 17 cases were detected by CYP21A2 gene,and 16 cases of Premature Adrenarche (PA) and 14 cases of Isolated Pr...

hrp0092p3-7 | Adrenals and HPA Axis | ESPE2019

Rare Case of Cortisol Producing Tumour in 14 Years Old Girl

Gärskog Helena , Mattsson Mattias , Lundberg Elena

Background: Adrenocortical Carcinoma (ACC) represents 0.16% of all pediatric neoplasm in children, 0-14.9 years, diagnosed between 1984-2010 according to Swedish Childhood Cancer Registry. ACC is most frequent in girls below 4 years of age.Case: A physically active 14 years old girl was referred due to growth velocity 0 cm over the last year. Her history revealed substantial weight gain (photos), pubertal arrest prem...

hrp0092p3-8 | Adrenals and HPA Axis | ESPE2019

Typical Phenotype of Isolated Aldosterone Synthetase (AS) Deficiency in two Infants with Heterozygous AS Gene Mutation: Dilemma for Diagnosis

Ozsu Elif , Ceran Aysegul , Uyanik Rukiye , Bilici Esra , Cetin Tugba , Siklar Zeynep , Aycan Zehra , Berberoglu Merih

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

hrp0092p3-9 | Adrenals and HPA Axis | ESPE2019

Late Onset 11 Beta Hydroxylase Deficiency: Two Cases

Bayramoğlu Elvan , Aycan Zehra , şavas Erdeve Şenay , Çetinkaya Semra

Introduction: Differential diagnosis should include congenital adrenal hyperplasia (CAH) in premature adrenarche patients. Clinically, it is possible to diagnose late onset and simple virilisation CAH caused by 21 hydroxylase deficiency because the criteria are better defined and genetic tests are widely available. But especially late onset 11 Beta hydroxylase deficiency can be very difficult to diagnose because the diagbostic criteria are not well defined and...

hrp0092p3-10 | Adrenals and HPA Axis | ESPE2019

An Unusual Testicular Adrenal Rest Tumor localization in a 15-Year-Old Boy with Congenital Adrenal Hyperplasia

Corica Domenico , Aversa Tommaso , Bottari Antonio , Ascenti Giorgio , Wasniewska Malgorzata

Introduction: Testicular adrenal rest tumor (TART) is the most important cause of infertility in male with congenital adrenal hyperplasia (CAH). TART is a benign tumor, mainly bilateral (75-80%), usually diagnosed in under-treated CAH male with hypercorticotropinemia, which generally regresses after glucocorticoids therapy adjustment. However, it may determine an irreversible damage by compression and toxic-paracrine effects on the surrounding testicular t...

hrp0092p3-11 | Adrenals and HPA Axis | ESPE2019

Primary Adrenal Insufficiency in Sudanese Children (Clinical Presentation, Etiology and Diagnostic Challenges)

Musa Salwa

Introduction: Primary adrenal insufficiency (PAI), though uncommon, is a condition with a high morbidity and mortality especifically in children where presentation may vary and mimic many common childhood illnesses. Many etiologies have been reported worldwide of which CAH was the commonest etiology in children. There is no published data on PAI in Sudanese children and to my knowledge, this is the first report in Africa that looks for clinical presentation an...

hrp0092p3-12 | Adrenals and HPA Axis | ESPE2019

Clinical Follow-Up of a Novel NR0B1 Mutation in a Case of Adrenal Hypoplasia Congenital

yang haihua , wei haiyan , Shen Linghua , Wang Huizhen , Chen Qiong , Chen Yongxing , Liu Xiaojing

We have examined a male child patient aged about 15 years old to confirm the diagnosis of adrenal hypoplasia congenital (AHC) at the Genetics in-patient department, Children's Hospital Affiliated to Zhengzhou University.When the child was 5 years and 9 months,he was diagnosed as abmormal phenotypic characteristics who had skin hyperpigmentation, penis enlargement, rapid growth over the past 2 years, along with fatigue, drowsiness, and pubic hair appearing for 2 months.Base...

hrp0092p3-13 | Adrenals and HPA Axis | ESPE2019

Genotype and Phenotype, Growth Outcome in 33 Korean Patients with 21-Hydroxylase Deficiency

Yoon Ju Young , Choi Im Jeong , Kim Hyun-Ji , Cheon Chong Kun

Purpose: This study aimed to describe gene mutations and growth outcome in patients with 21-hydroxylase deficiencyMethods: Subjects were diagnosed as 21-hydroxylase deficiency by direct Sanger sequencing or multiple ligation-dependent probe amplification analysis and visited Pusan National University Children's Hospital from July 2008 to April 2019.We investigated the genotype, phenotype and growth profiles.<p cl...

hrp0092p3-14 | Adrenals and HPA Axis | ESPE2019

One Case Report of Uighur Girl with Cushing Syndrome

li wenjing , chen da , xiawudong adaleti

Objective: Through the diagnosis and treatment of Uighur girl with adrenocortical adenoma, who was complain of short stature, to prompt pediatric endocrinologists pay attention to hypercortisolism in the diagnosis and treatment of children with short stature.Methods: With the case report of hypercortisolism in a Uighur child, to introduce the diagnosis and treatment of adrenocortical adenoma, presenting the clinical char...

hrp0092p3-15 | Adrenals and HPA Axis | ESPE2019

Nephrotic Syndrome Developed in a Girl With Lipoid Adrenal Hyperplasia due to StAR Gene Mutation – First Report

Mi Jang Kyung , Hoon Park Yong , Yeong Chung Woo , Keum Changwon

Introduction: The incidence of idiopathic nephrotic syndrome (NS) is 1.5~16.9 per 100,000 children. The cause remains unknown but the pathogenesis of idiopathic NS is thought to involve immune dysregulation, systemic circulating factors, or inherited structural abnormalities of the podocyte. NS is characterized by the triad of proteinuria, hypoalbuminemia, and edema. There can be an antecedent infection, typically of the upper respiratory tract. Moreover,...

hrp0092p3-16 | Adrenals and HPA Axis | ESPE2019

Pneumocystis Jiroveci Pneumonitis Complicating Neonatal Cushing's Syndrome - the Therapeutic Dilemma

Auerbach Adi , Gillis David , Megged Orly , Shahroor Sarit , Avnon-Ziv Carmit , Hirsch Harry , Levy-Khademi Floris

Background: Endogenous Neonatal Cushing's syndrome (CS) is a rare condition with around 100 cases reported worldwide. Pneumocystis Jiroveci pneumonitis (PJP) is a well described, albeit rare, complication of exogenous CS (i.e. CS resulting from external glucocorticoids). The pneumonitis usually occurs following reduction of glucocorticoid dosage and is therefore thought to be triggered by an inappropriate immune reaction evident after glucocorticoids withd...

hrp0092p3-17 | Adrenals and HPA Axis | ESPE2019

Newborn Screening for Congenital Adrenal Hyperplasia: Should we Worry more about False Positives or False Negatives?

Ciccone Sara , Pedicelli Stefania , Ventresca Silvia , Desideri Elena , Stella Marcello

Background: Newborn screening for congenital adrenal hyperplasia (CAH) is based on the determination of 17-hydroxyprogesterone (17OHP) on blood and its need is confirmed by the most recent guidelines on the subject. In Italy this screening is not mandatory, and its application is on a regional basis. Among its disadvantages, it is well known the high frequency of false-positives, in particular in premature babies and those born small for gestational age. Howev...

hrp0092p3-18 | Adrenals and HPA Axis | ESPE2019

The Unusual Adverse Side Effects of Super-Potent Topical Steroids

Abdelmeguid Yasmine , Mahfouz Shaymaa

Background: Topical steroids are commonly used in clinical practice for management of dermatological diseases. Clobetasol propionate is the most potent. They are systemically absorbed and may cause adverse side effects due to improper and prolonged use, such as iatrogenic Cushing's syndrome and adrenal insufficiency due to suppression of hypothalamic-pituitary-adrenal axis.Case presentation: A 7-month-old boy referre...

hrp0092p3-19 | Adrenals and HPA Axis | ESPE2019

A Case with Central Adrenal Insufficiency and Early Onset Obesity: Proopiomelanocortin Deficiency

Acar Sezer , Nalbantoşlu Özlem , Koç Altuş , Köprülü Özge , Arslan Gülçin , Özkaya Beyhan , Murat Erdoşan Kadri , Özkan Behzat

Introduction: Proopiomelanocortin (POMC) deficiency is a rare disease characterized by central adrenal insufficiency, early-onset obesity, red hair, and impaired skin pigmentation. This disease is caused by mutations of POMC that is localized in 2p23.3. Here, we aimed to present a case with central adrenal insufficiency, red hair, and rapid weight gain and who was detected frameshift mutation in the POMC.Case</s...

hrp0092p3-20 | Adrenals and HPA Axis | ESPE2019

Short Synacthen Test in Children at Sultan Qaboos University Hospital; Reviewing the Sampling Times

Alsaffar Hussain , Alshafey Mohammed , Ullah Irfan , Al-Riyami Nafila , Alyaarubi Saif , Al-Shidhani Azza

Introduction: Primary adrenal insufficiency in paediatrics is uncommon but lethal condition, it results most commonly from congenital adrenal hyperplasia1. Short Synacthen Test (SST) is widely used to assess the glucocorticoid synthesis in the adrenal glands. Synacthen doses are age-based; 62.5mcg for babies younger than 6months, 125mcg for infants between 6-24months and 250mcg for children older than 2years. There is a controversy amongst endocrino...

hrp0092p3-21 | Adrenals and HPA Axis | ESPE2019

Pheochromocytoma in Children: A Case Report

Trong Thanh Nguyen , Vu Chi Dung , Phuong Thao Bui , Nguyen Ngoc Khanh , Do Thanh Mai , Thu Ha Nguyen

Pheochromocytoma (PCC) is a rare tumor arising from the adrenal medulla as well as extra-adrenal paraganglion system and secreting catecholamines causing severe hypertension in children. The gold standard for diagnosis is the measurement of free plasma levels of metanephrines while management evaluates the location and size of the tumor and possible metastatic lesions. Preoperative treatment with alpha blockers, beta blockers and tyrosine hydroxylase inhibitors improves safety...

hrp0092p3-22 | Adrenals and HPA Axis | ESPE2019

A Case with Congenital Adrenal Hyperplasia Diagnosed by Malnutrition

Demet Akbas Emine , kor yilmaz

Introduction: Congenital adrenal hyperplasia is an autosomal recessive disorder characterized by enzyme deficiencies in the adrenal steroidogenesis pathway. The most common type is 21 hydroxylase deficiency and is divided into two groups as classical and nonclassical type. 75% of the classical type of cases is salt-losing type, and cortisol and aldosterone deficiency symptoms occur in patients. Female cases presented with ambiguus genitalia due to hyperand...

hrp0092p3-23 | Adrenals and HPA Axis | ESPE2019

Recurrent Hypoglycemia-Not Every Low Sugar is Hyperinsulinemia

Chaturvedi Deepti

Introduction: Recurrent hypoglycemia is a life threatening condition. And its early diagnosis and correct diagnosis can be crucial to entail survival of the child.Objectives: To review this case with respect to the clinical scenario and critical pathways we should remember while investigating a case of recurrent hypoglycemia.Methods: History: A 5 year old, Pakistani origin, male ch...

hrp0092p3-24 | Adrenals and HPA Axis | ESPE2019

Clinical Characteristics and Genetic Analysis in one Patient with Congenital Lipoid Adrenal Hyperplasia

Xi Li , Chang Zhuo , Pei Zhou , Li Xiaojing , Luo Feihong

Objective: To explore the clinical and molecular genetic characteristics of congenital lipoid adrenal hyperplasia (CLAH), and to sequence the acute regulatory protein (steroid acute regulatory, StAR) gene of the infant patient and her pedigree.Methods: Physical examination, laboratory tests, and imaging examination of the 1-month- old patient with CLAH were collected. DNA was extracted from blood samples of the patient a...

hrp0092p3-25 | Adrenals and HPA Axis | ESPE2019

Unusual Association: Allgrove Syndrome and Hypopituitarism

Safi Wajdi , Hadj Kacem Faten , Gargouri Imene , Saafi Wiem , Rekik Nabila , Charfi Nadia , Hachicha Moungia , Kammoun Thouraya , Mnif Feki Mouna , Kammoun Hassen , Abid Mohamed

Introduction: Allgrove syndrome is a genetic disorder of autosomal recessive inheritance associating in its complete form: Esophageal achalasia; alacrymia and adrenal insufficiency. This is generally an adreno-corticotropic hormone (ACTH) resistant. In this context we report the case of a patient followed in the endocrinology department.Case: This is the case of a boy who comes from a consanguineous marriage, with family...

hrp0092p3-26 | Adrenals and HPA Axis | ESPE2019

Title: Long-Term Outcome of Congenital Adrenal Hyperplasia Patients at KFSHRC-Saudi Arabia. Tertiary Center Experience

Aldalaan Haneen , Alsaghier Afaf

Background: Congenital adrenal hyperplasia (CAH) refers to a group of inherited genetic disorders involving deficiencies in enzymes that convert cholesterol to cortisol within the adrenal cortex. Deficiency of 21-hydroxylase is the most commonly defective enzyme. Affecting 1 of 8000 live births in KSA. It requires life-long steroid replacement therapy in form of glucocorticoid and mineralocorticoid replacement. Without appropriate monitoring, 21-OH deficiency ...

hrp0092p3-27 | Adrenals and HPA Axis | ESPE2019

A Boy with Adrenal Hypoplasia Congenita without External Genital Abnormalities

Umeki Ikumi , Kanno Junko , Shima Hirohito , Suzuki Dai , Kamimura Miki , Homma Keiko , Hasegawa Tomonobu , Fujiwara Ikuma , Kure Shigeo

Background: Adrenal hypoplasia congenita (AHC) is a rare disorder with an estimated frequency of 1 case per 12,500 live births. AHC causes 46,XY disorders in sex development (DSD) due to adrenal androgen deficiency.Objective: Case report ona male AHC patient with no external genitalia abnormalities.Case report: The baby was born at 37 weeks'gestation with a height of 46.5 cm (-...