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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 2

Adrenals and HPA Axis

hrp0092p2-1 | Adrenals and HPA Axis | ESPE2019

Gender Identity, Sexual Orientation and Quality of Life in Women with Non-classic Congenital Adrenal Hyperplasia

Segev-Becker Anat , Jacobson Roi , Stein Ronnie , Eyal Ori , Oren Asaf , Schachter-Davidov Anita , Israeli Galit , Lebenthal Yael , Joel Daphna , Weintrob Naomi

Context: Higher frequency of atypical gender identity, non-heterosexual fantasies and sexual relationships, and cross-gender role behavior has been reported in females with the more severe salt wasting form of congenital adrenal hyperplasia (CAH). Data on these aspects and quality of life (QOL) among the milder, more prevalent form, the non-classic CAH (NCCAH) is scarce.Objective: To assess gender identity, gender role, ...

hrp0092p2-2 | Adrenals and HPA Axis | ESPE2019

CYP11A1 (Side-chain Cleavage Enzyme) Defect in Three Brothers Causing Glucocorticoid and Mineralocorticoid Deficiency and Development of Testicular Adrenal Rest Testicular Tumour

Kallali Wafa , Gray Ewan , Mehdi Muhammad Zain , Lindsay Robert , Metherell Lou , Buonocore Federica , Achermann John , Donaldson Malcolm

Background: CYP11A1 gene encodes the cholesterol side-chain cleavage enzyme, P450scc, which plays a key role in the initial steps of steroidogenesis. CYP11A1 insufficiency lead to a variable phenotype ranging from severe early onset primary adrenal insufficiency (PAI) in the neonatal period,with 46,XY DSD; to late-onset PAI with normal genitalia.Objective: Detail the phenotype of a family sharing newly described...

hrp0092p2-3 | Adrenals and HPA Axis | ESPE2019

Contraceptives in Female Adolescents with 21-hydroxylase Deficiency (CAH) - a way to Optimize Treatment with Respect to Androgen Excess? A Pilot Study

Boettcher Claudia , Graf Stefanie , Flück Christa E

Background: At present, treatment of „classic" congenital adrenal hyperplasia (21-hydroxylase-deficiency, 21OHD) consists of glucocorticoid and mineralocorticoid replacement. However, often androgen excess and its negative metabolic impact are difficult to control without accepting glucocorticoid overtreatment, especially in adolescence. In healthy subjects oral contraceptives (containing ethinylestradiol) increase cortisol binding capacity and free c...

hrp0092p2-4 | Adrenals and HPA Axis | ESPE2019

Bone Age Advancement in Prepubertal Children with Premature Adrenarche

Santos-Silva Rita , Costa Carla , Castro-Correia Cíntia , Fontoura Manuel

Introduction: Premature adrenarche (PA) is usually define as the appearance of clinical signs of androgen action before the age of 8 years in girls and 9 years in boys, associated the serum DHEAS above 40µg/dl.Aims: 1) To characterize a population of prepubertal children with PA regarding birth weight, anthropometry, growth velocity, height difference, bone age, IGF1 and DHEAS. 2) To compare IgF1, bone age, growth v...

hrp0092p2-5 | Adrenals and HPA Axis | ESPE2019

Clinical Phenotype and Genotype Association in Patients with 21-hydroxylase Deficiency

Aghayeva Asmar , Turan Hande , Toksoy Guven , Dagdeviren Cakir Aydilek , Berkay Ezgi , Gunes Nilay , Evliyaoglu Olcay , Uyguner Zehra Oya , Dundar Munis , Tuysuz Beyhan , Ercan Oya

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessively transmitted disease and 95% of CAH cases are due to 21-hydroxylase deficiency (21-OHD). There are more than 100 mutations that cause CAH due to 21-OHD and the clinical expression of the disease is reported to correlate with mutated alleles.The aim: The aim of this study was to investigate responsible mutations and then to evaluate genotype...

hrp0092p2-6 | Adrenals and HPA Axis | ESPE2019

Corticosteroid Use: Practices and Attitudes of Pediatricians

Sekler Opal , Segev-Becker Anat , Interator Hagar , Brener Avivit , Schachter-Davidov Anita , Elkon-Tamir Erella , Lebenthal Yael

Context: Synthetic corticosteroids are medications frequently prescribed for a wide range of medical indications. Various preparations differ in their biological effect, mode of administration, potency and duration of action. Comprehensive knowledge is essential in order to prescribe corticosteroids in an efficient yet safe manner.Objectives: To explore pediatricians' practices and attitudes regarding corticosteroid ...

hrp0092p2-7 | Adrenals and HPA Axis | ESPE2019

Updates on Genotype and Phenotype of Vietnamese Patients with X-Linked Adrenoleukodystrophy

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

Background: The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28. This disease is characterized by progressive neurologic dysfunction, and occasionally associated with adrenal insufficiency. The estimated frequency is about 1:42000 in male, whereas the estimated frequency for heterozygous women is 1:14000. There was no correlation between genotype and phenotype of X-ALD patients....

hrp0092p2-8 | Adrenals and HPA Axis | ESPE2019

Novel TBX19 Mutation as Cause of Hypoglicemia in Two Siblings

Castagna Andrea , Bottero Arianna , Ruggiero Jessica , Viola Anna , Perrotti Chiara , Oprandi Daniela , Rossi Stefano , Badolato Raffaele , Cutrì Maria Rosa , Mingotti Chiara , Grazzani Livia , Buzi Fabio , Pilotta Alba

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

hrp0092p2-9 | Adrenals and HPA Axis | ESPE2019

The Clinical Polymorphism and Variability of X-linked Adrenoleukodystrophy in One Russian Family

Sidorova Yuliya , Sozaeva Leila , Kareva Maria , Peterkova Valentina

Adrenoleukodystrophy is an X-linked, inherited metabolic disorder. Here, we present 3 clinical cases of different phenotypes with one mutation in ABCD1 gene in one family.Patient 1: At the age of 9 years, manifestation of neurological symptoms was observed, skin color changed, these symptoms progressed monthly. MRI of the brain showed 13 points on Loes scale.During the examination, the diagnosis of X-linke...

hrp0092p2-10 | Adrenals and HPA Axis | ESPE2019

Functional Adrenocortical Oncocytoma – a Rare Cause of Progressive Virilization and Secondary Amenorrhea

Dumic Kubat Katja , Kusec Vesna , Uroic Anita Spehar , Vinkovic Maja , Krnic Nevena

Introduction: Oncocytomas are rare epithelial tumors that can be found in various tissues such as kidney, salivary and endocrine glands. Adrenocortical oncocytomas (AON) are very rare tumors with around 160 patients described in the literature. Generally they are regarded as benign and mostly hormonally nonfunctional. When hormonally active, these tumors produce adrenal steroids resulting in various clinical presentations such as virilization, feminization, an...

hrp0092p2-11 | Adrenals and HPA Axis | ESPE2019

Long-term Prednisone versus Hydrocortisone Treatment in Children with Classic Congenital Adrenal Hyperplasia (CAH): A Controlled Study

Soliman Ashraf Tawfik , Abdel Meguid Ahmed Shayma Elsayed , Ramadan Magdy , Elawwa Ahmed , Said Abugabal Ahmed Mohamed , Ahmed Emam Mohamed Hassan

Background: Debate still exists about the safety of long-term use of prednisone (PD) versus hydrocortisone (HC) for treating children with CAH. Relatively slight supraphysiologic levels may be enough to blunt growth velocity, increase weight gain.Objectives of the study: We evaluated the anthropometric and biochemical effects of long-term PD versus HC treatment in children with CAH-21OHD.<p class="ab...

hrp0092p2-12 | Adrenals and HPA Axis | ESPE2019

A Case of X-linked Adrenoleukodystrophy Presenting with Primary Adrenal Insufficiency and Normal VLCFA

Özkaya Beyhan , Acar Sezer , Özdemir Taha R. , Nalbantoglu Özlem , Köprülü Özge , Arslan Gülçin , Kutbay Yasar B. , Özkan Behzat

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare autosomal recessive neurodegenerative disease caused by a mutation in the ABCD1 gene. Although its clinical presentation varies, X-ALD is generally characterized by progressive demyelination of the central nervous system, primer adrenal insufficiency, and elevated plasma very long-chain fatty acid (VLCFA) levels. Herein, we aimed to present a case of X-ALD with normal VLCFA caused by a path...

hrp0092p2-13 | Adrenals and HPA Axis | ESPE2019

Different Potent Glucocorticoids, Different Routes of Exposure but The Same Result: Iatrogenic Cushing's syndrome and Adrenal Insufficiency

Güven Ayla

Background: Cushing's syndrome (CS) is very rare in children and the most common cause is the high doses of glucocorticoids (GC) administered. It is well known that application of potent GCs cause iatrogenic CS (ICS) due to suppressing hypothalamo-hypophyseal-adrenal (HPA) axis and later even adrenal insufficiency (AI). Other side effects of GCs are also seen in these patients.Objective: The aim of this study is to r...

hrp0092p2-14 | Adrenals and HPA Axis | ESPE2019

Differences Between Normal-bmi Girls with Premature Adrenarche and Overweight or Obese Girls with Premature Adrenarche

Santos-Silva Rita , Costa Carla , Castro-Correia Cíntia , Fontoura Manuel

Introduction: There seems to be an undoubting, but still puzzling, relationship between obesity and premature adrenarche (PA).Aim: To characterize a population of prepubertal girls with PA and to compare girls with a normal body mass index (BMI) with girls who are overweight or obese, in what regards gestational age and birth weight, age at the referral, clinical signs, anthropometry, bone age and hormone profile.<p ...

hrp0092p2-15 | Adrenals and HPA Axis | ESPE2019

Rare Causes of Primary Adrenal Insufficiency at King Faisal Specialist Hospital -Retrospective Study

Alsagheir Afaf , Alotaibi Mohammed , Alrayes Lamya

Introduction:• Adrenal insufficiency is a rare, but potentially fatal medical condition 1.• In children, the cause is most commonly congenital adrenal hyperplasia (CAH) but in recent years a growing number of causative gene mutations have been identified resulting in syndromes that share primary adrenal insufficiency (PAI) characteristics.<p cl...

hrp0092p2-16 | Adrenals and HPA Axis | ESPE2019

A Case of Infantile Cushing's Syndrome from McCune Albright Syndrome: The Importance of Multiple-Site Sampling for Genetic Testing

Beng Hui Ng Nicholas , Tay Vanerry LQ , Ooi Delicia SQ , Loke Kah Yin

Case Description: We report a case of a 7-month old Vietnamese boy who presented with failure to thrive and a Cushingoid appearance from 1 month old. There was no history of exogenous steroid use. On examination, height and weight were <3rd centile. He was Cushingoid with motor development delay. There were multiple large café-au-lait lesions over the sacral region but no limb asymmetry to suggest fibrous dysplasia.En...

hrp0092p2-17 | Adrenals and HPA Axis | ESPE2019

Duodenal Web Presenting as Pseuhypoaldosteronism in Infancy

El Bejjani Mireille , Thalange Nandu

Case Report: A 5-month-old girl born to first-cousin parents was referred to endocrinology for evaluation following two hospitalizations for vomiting and dehydration with severe hyponatremia and hyperkalemia. She had a history of recurrent emesis and poor weight gain, with a reportedly normal abdominal and renal ultrasound.Initial evaluation showed hyponatremia with elevated renin 170 ng/ml/hr (normal 2-37 ng/ml/hr) and aldosterone 275 n...

hrp0092p2-18 | Adrenals and HPA Axis | ESPE2019

A Rare Case of Pseudohypoaldosteronism in a Neonate Secondary to Congenital Hydrometrocolpos

Kumar Shruti , McDermott Helen , Kamupira Sheilah , Chizo Agwu Juliana

Background: Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. The incidence in term neonates is 0.00014-0.001%. The condition presents at extremes of childhood, at birth when maternal circulating hormones are raised and at menarche when oestrogen production commences. Pseudohypoaldosteronism (PHA)...

hrp0092p2-19 | Adrenals and HPA Axis | ESPE2019

Hyperandrogenism in a 13-year-old Girl due to Glucocorticoid Receptor Mutation

Admoni Osnat , Bercovitch Dani , Tenenbaum-Rakover Yardena

Glucocorticoid resistance syndrome (GRS) is a rare genetic disorder caused by inactivating mutations of the NR3C1 gene encoding the glucocorticoid receptor. The phenotypic spectrum is broad but typically includes symptoms of adrenal insufficiency, mineralocorticoid excess and hyperandrogenism. So far, about 20 different mutations in NR3C1 presenting with the GRS phenotype have been reported.We report a 13-year-old girl that presented wi...

hrp0092p2-20 | Adrenals and HPA Axis | ESPE2019

Polydipsia, Hyponatremia and a Biochemical Profile of Aldosterone Synthase Deficiency

Reinauer Christina , Förtsch Katharina , Meissner Thomas , Mayatepek Ertan , Holterhus Paul Martin , Kummer Sebastian

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...

hrp0092p2-21 | Adrenals and HPA Axis | ESPE2019

Fludrocortisone Treatment in a Child with Postural Orthostatic Tachycardia Syndrome (POTS): A Case Report

Varriale Gaia , Greco Marco , De Simone Luciano , Pozzessere Anna , Stagi Stefano

Background: Postural orthostatic tachycardia syndrome (POTS) is a multifactorial condition, which implies symptoms as fatigue, tachycardia, sleep disorders and autonomic symptoms. The fundamental clinical sign is the manifestation of an abnormal increase in heart rates of at least 40 bpm within 10 minutes assuming an upright position, delineating a condition of orthostatic intolerance and decreasing quality of life.Objective</str...

hrp0092p2-22 | Adrenals and HPA Axis | ESPE2019

An Atypical Case of Ectopic ACTH Syndrome in an Adolescent Boy

Sharma Shreya , Joshi Rajesh

Background: Ectopic ACTH syndrome (EAS) is exceedingly rare in children and scarcely reported. Pancreatic Neuroendocrine tumours (NET) can rarely lead to secretion of ectopic adrenocorticotropic hormone (ACTH).Case Characteristics: A14-year-old adolescent boy presented with isolated hyperpigmentation and intermittent abdominal pain and underwent evaluation for primary adrenal insufficiency, but turned out to have subclin...

hrp0092p2-23 | Adrenals and HPA Axis | ESPE2019

"Girls with Idiopathic Premature Adrenarche Achieve Normal Adult Height"

Javier Mejorado-Molano Franciso , Pérez-Segura Pilar , Gómez-Aragón Isabel , Collado-Valiente Rosa , Gómez-Neo Ana , Gavela-Pérez Teresa , Soriano-Guillén Leandro

Introduction: Studies about pubertal onset and the menarcheal age in girls with the antecedent of idiopathic premature adrenarche (IPA) are limited and with discordant results. For these reasons, we created a cohort of girls with the diagnosis of IPA. The objectives of our study were: a) to know the age of pubertal onset; b) to evaluate menarcheal age; c) to determine the growth rate in the first two years after the IPA diagnosis; d) to collect adult height da...

hrp0092p2-24 | Adrenals and HPA Axis | ESPE2019

Adult Height and Growth Pattern in Patients with Classic Congenital Adrenal Hyperplasia

Lee Ga Hyun , Kim Se Jin , Kang Seok Jin , Kim Heung Sik

Background: Congenital adrenal hyperplasia (CAH), mostly caused by 21-hydroxylase deficiency, is autosomal recessive disorder characterized by impaired cortisol synthesis. It can be presented with a combination of aldosterone and cortisol deficiency and androgen excess. Therefore, excess production of androgen and glucocorticoid replacement can result to early bone maturation and ultimately diminished adult height (AH).Objectives...

hrp0092p2-25 | Adrenals and HPA Axis | ESPE2019

Cushing Syndrome due to an Adrenacortical Carcinoma in a Baby with Atypical Beckwith-Wiedemann Syndrome

Eltan Mehmet , Cerit Kivilcim , Kaygusuz Sare Betul , Ates Esra , Eker Nursah , Bagci Pelin , Ergelen Rabia , Turan Serap , Bereket Abdullah , Guran Tulay

Beckwith-Wiedemann syndrome (BWS) is a congenital tumor-predisposition syndrome of which around 70% develops because of the methylation defects in the imprinted genes at chromosome 11p15.5. KCNQ1OT1 hypomethylation is the most common underlying genetic aberration in sporadic the BWS, accounting for 50% of the sporadic cases but confers the least tumor risk. We present a 5 month-old girl who presented with an excessive weight gain, cushingoid face, arrested gro...