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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 P3

hrp0089p3-p001 | Adrenals and HPA Axis P3 | ESPE2018

Congenital Adrenal Hyperplasia: A Patient’s Perspective, a Mother’s Story

Landa Allison

Statement of the Problem: Studies suggest that psychosocial factors – in addition to physical barriers – work to impair fertility and successful childbirth in women with Congenital Adrenal Hyperplasia. This includes a reluctance to consult medical professionals as to the scope of the problem and possible solutions. This was the case with Allison Landa, who was not even successfully diagnosed with CAH until the age of 30 due to parental negligence and the terror of di...

hrp0089p3-p002 | Adrenals and HPA Axis P3 | ESPE2018

An Extremely Rare Cause of Cushing Syndrome in Chidhood

Ramcharan Amith

Cushing Syndrome is rare in childhood. Between 2 and 5 new cases per million people are diagnosed each year, of which only 10% are reported to occur within the paediatric population. There is a female predominance but a male predominance has been reported in infants. Classical clinical indicators of Cushing syndrome in childhood include central weight gain and growth failure. Other clinical manifestations include facial flushing, hypertension, hirsutism, pubertal delay, acne, ...

hrp0089p3-p003 | Adrenals and HPA Axis P3 | ESPE2018

Nelson’s Syndrome after Bilateral Adrenalectomy for Cushing’s Disease in Pediatric Age – Report of a Case

Machado Catarina M , Leite Ana L , Sousa Ana , Almeida Lucia , Campos Rosa Armenia , Oliveira Maria Joao , Marques Jorge Sales

Introduction: Nelson’s syndrome is a potentially severe complication of bilateral adrenalectomy, a radical procedure performed in the treatment of hypercortisolism in Cushing’s disease (CD). We report a case of CD in pediatric age submitted to bilateral adrenalectomy with subsequent Nelson’s syndrome.Case report: Male, 5-year-old, referred to a Pediatric outpatient clinic because of growth failure, rapid weight gain and high blood pressure...

hrp0089p3-p004 | Adrenals and HPA Axis P3 | ESPE2018

Basal Levels of 17-hydroxyprogesterone can Distinguish Isolated Precocious Pubarche from Non-Classical Congenital Adrenal Hyperplasia in Children: A Prospective Observational study

Grandone Anna , Festa Adalgisa , Mariani Michela , Luongo Caterina , Giudice Emanuele Miraglia del

Background: Basal levels of androgens, in particular 17-OHprogesterone (17OHP), are widely debated as predictors of non-classical congenital adrenal hyperplasia (NCCAH) among patients with precocious pubarche (PP). So many authors suggested the execution of ACTH stimulation test in all children with PP. The aim of our study was to identify clinical and biochemical predictors of NCCAH in children with PP.Methods: We conducted a prospective study of 92 pat...

hrp0089p3-p005 | Adrenals and HPA Axis P3 | ESPE2018

Age at Diagnosis and Outcome in Maghreb patients with 21-hydroxylase Deficient Congenital Adrenal Hyperplasia; Urgent need for Newborn Screening

Ladjouze Asmahane , Yala Imane , Yahiaoui Manel , Zerguini Dounia , Tardy Veronique , Mohammedi Kahina , Taleb Ourida N , Kerkouche Soraya , Berkouk Karima , Bensmina Manoubia , Maoudj Abdeljlil , Aboura Rawda , Anane Tahar , Morel Yves , Bouzerar Zahir

Objectives: To examine age at presentation and outcome in children diagnosed with 21-hydroxylase deficient congenital adrenal hyperplasia (21-OHD CAH) in Algeria in the absence of a national neonatal screening program.Design: Retrospective analysis of patients followed in a single centre from 2007 to 2017. The diagnosis of CAH was established on clinical and biochemical grounds ± genetic analysis.Results: Of 168 patients (114F...

hrp0089p3-p006 | Adrenals and HPA Axis P3 | ESPE2018

An Adrenal Tumor Ppresenting as a Premature Pubarche in a 7 Year-old Girl

Marie-Neige Campas-Lebecque , Isabelle Souto , Stephanie Proust , Marc-David Leclair , Valentine Suteau , Justine Bailleul , Maryam Azgal , Natacha Bouhours-Nouet , Regis Coutant

Introduction: Premature pubarche is the most frequent diagnosis when children present moderate pubic hair development, but other diagnosis must be ruled out. We report the case of a child with premature pubarche with hormonal results in the physiological range, corresponding to an adrenal tumor.Observation: A girl aged 6.8 years consulted for precocious pubertal development (pubic hair stage 3, breast stage 2), with moderate acne. There was no virilizati...

hrp0089p3-p007 | Adrenals and HPA Axis P3 | ESPE2018

Refractory Cyclical Cushing’s Disease - a Case of Multiple Pituitary Micro-adenomas in a Three Year Old Girl after 8 Years Follow up

Robinson Elizabeth , Poonam Poonam Dharmaraj , Heyningen Carl van

Case presentation: A 3 years 10 months old British white girl presented with rapid weight gain of 11 kg over 4 months, hirsutism, central obesity, moon face, buffalo hump and hypertension.Investigations: Plasma cortisol, IGF-1 and ACTH levels were elevated. The 9am plasma cortisol was 1035 nmol/l (140–500) with simultaneous plasma ACTH 13 pmol/l (1–11). Plasma cortisol and ACTH levels responded to both dexamethasone suppression and CRH stimulat...

hrp0089p3-p008 | Adrenals and HPA Axis P3 | ESPE2018

Topical Corticosteroid-Induced Adrenal Insufficiency

Ghaddhab Chiraz , Carine Beaufort

Introduction: Topical corticosteroids are often used for the treatment of dermatological diseases. However, systemic adrenal insufficiency may result from their overuse. Patients at risk for development of adrenal insufficiency include especially young children and patients with damaged skin barriers.Case presentation: We report the case of a 11-year-old boy who was seen in our clinic for suspicion of Cushing syndrome. He was adressed by a dermatologist ...

hrp0089p3-p009 | Adrenals and HPA Axis P3 | ESPE2018

Early Diagnosis of Duchenne Muscular Dystrophy in 6-Months-Old Male with Primary Adrenal Insufficiency

Yanar Eda , Kopylova Irina , Kanivets Ilya , Korostelev Sergey , Pyankov Denis , Zakharova Ekaterina , Kareva Maria , Orlova Elizaveta

Background: Adrenal hypoplasia congenital associated with DAX-1 (NROB1) gene mutations is a rare cause of primary adrenal insufficiency in male. It can be presented as a part of Xp21 contiguous gene deletion syndrome which characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability (IL1RAPL1) and/or Duchenne muscular dystrophy (DMD).Case report: We report a 6-month-old male infant, which presen...

hrp0089p3-p010 | Adrenals and HPA Axis P3 | ESPE2018

Lipoid Adrenal Hyperplasia Diagnosed with Severe Cholestasis in Newborn

Kaplan Emel Hatun Aytac , Melekoğlu Nuriye Aslı , Keskin Mehmet , Cağatay Derya , Karaer Kadri

Introduction: Congenital lipoid adrenal hyperplasia is the most severe form of congenital adrenal hyperplasia and is rarely seen. Steroid synthesis cannot be done in the adrenal gonads. Adrenal glands have hyperplasia and lipid accumulation. Male babies are born to girls. Most of the cases are lost with severe adrenal insufficiency. Patients diagnosed and treated at supraphysiological doses during neonatal period. Here we present a case of lipoid adrenal hyperplasia diagnosed ...

hrp0089p3-p011 | Adrenals and HPA Axis P3 | ESPE2018

Severe Hyponatraemia with Absence of Hyperkalaemia in a Patient with Addison’s Disease

Doneray Hakan , Ozden Ayse , Kizilelma Nagihan Erol

Objective: Autoimmunity of the adrenal gland, also known as Addison’s disease, is characterised by cell mediated immune destruction of the adrenal cortex. We present a child with Addison’s disease who has severe hyponatraemia and normokalemia, which led to an inappropriately low index of suspicion initially at presentation.Case: A 12-year-old boy diagnosed with adrenal deficiency was admitted to hospital with 2 weeks of vomiting, fatigue and we...

hrp0089p3-p012 | Adrenals and HPA Axis P3 | ESPE2018

Deep Bronze Skin without Sun Exposition in a 16-Year Old Girl

Jasser-Nitsche Hildegard , Loffler Sabine , Suppan Elisabeth , Weinhandl Gudrun , Frohlich-Reiterer Elke

Introduction: Adrenal insufficiency (AI) leads to a diminished production of steroid hormones. AI is subdivided into a primary and a secondary form. In primary AI, the underlying defect affects the adrenal gland itself resulting in a low steroid production and an overproduction of adrenocorticotropic hormone (ACTH). On the contrary, the cause of secondary AI lies in the pituitary, leading to a reduced production of ACTH and consecutively to a reduced excretion of corticosteroi...

hrp0089p3-p013 | Adrenals and HPA Axis P3 | ESPE2018

Case of Primary Pigmented Nodular Adrenocortical

Huynh Loan , Tran Huyen

Introduction: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing’s syndrome and has characteristic gross and microscopic pathologic findings.Case presentation: We report a case of PPNAD in a 11-year-old girl. She was admitted to our hospital with a chief complaint of rapid weight gain in 1.5 years. She also had hypertension and the signs of Cushing syndrome. Examination associated with laboratory tes...

hrp0089p3-p014 | Adrenals and HPA Axis P3 | ESPE2018

Two Case Report of Adrenocortical Adenoma

Huynh Loan , Tran Huyen

Adrenal cortical tumor is rare in children and aldolescents. It is more common in girls and almost hormone overproduction with Cushing syndrome and virilization. Resection is the main management in order to control defenitively. Differentiating from begnin to malignancy lesion still remains a big obstacle for the clinicians and histopathologist. We report two cases of adrenal cortical tumor in children with different signs and symptoms and review their clinical presentations, ...

hrp0089p3-p015 | Adrenals and HPA Axis P3 | ESPE2018

A Homozygous Mutation c.518T>A (p.lle173Asn) of the CYP21A2 Gene Presenting as Non-Classical Congenital Adrenal Hyperplasia (NCAH)

Karamfilova Teodora , Stoeva Iva , Mihova Kalina , Kaneva Rada , Tsochev Kaloyan , Iotova Violeta

Congenital adrenal hyperplasia due to P450c21 (21-hydroxylase) deficiency is an autosomal recessive disorder presenting as three phenotypes dependent on the residual enzyme activity: two classical ones (salt wasting and simple virilizing, SV) and the milder NCAH. All forms have increased adrenal androgens. Around 0.1% of Caucasians and up to several percent of certain ethnic groups are affected by NCAH. Most NCAH patients remain undiagnosed. Symptoms of NCAH may develop at any...

hrp0089p3-p016 | Adrenals and HPA Axis P3 | ESPE2018

Adrenals and HPA Axisa; Atypical Presentation of Adrenal Insufficiency

Khan Khalid

Case report: Atypical presentation of adrenal insufficiency: 13 year old presented with vomiting (one day), lethargy two weeks. mild dehydration, vitals stable, generally healthy, examination unremarkable, medication nill, history of insect bite two weeks ago, no allergies, started on I. V maintenance fluids, investigations (blood) normal, the only abnormal was low soduim, normal glucose and potassium, soduim was 122 mol/l, repeated soduim was 119 after the maintain ace 0.9% n...

hrp0089p3-p017 | Adrenals and HPA Axis P3 | ESPE2018

Non-classic Congenital Adrenal Hyperplasia Causing Alleles among Adolescent Girls with PCOS – Genetical Study

Lidaka Lasma , Lazdāne Gunta , Gailīte Linda , Dzivite-Krisane Iveta

Introduction: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in adult women. Syndrome is characterised by hiperandrogenism, oligo/amenorrhoea and polycystic ovary morphology in ultrasound. Clinical signs of the syndrome usually start already during adolescent years. Non-classic congenital adrenal hyperplasia (NCAH), caused by several mutations in CYP21A2 (6p21.3) gene, is the most common differential diagnosis for girls presented with symptoms of P...

hrp0089p3-p018 | Adrenals and HPA Axis P3 | ESPE2018

Adequate Interpretation of Cortisol Levels in Children

Chueca Maria J , Villarreal Maria , Andres Carlos , Berrade Sara , Dura Teodoro , Nova Luiz-Miguel , Rodriguez Pablo

Adrenocortical tumours are a rare disease in the paediatric population, with a higher prevalence in children under 5 years. The aetiology is partially known; in some cases it is related to mutations in the tumour suppressor gene p53 (TP 53). The classical symptoms of the Cushing syndrome are not usually present in children, so we should suspect this disease in children and teenagers with obesity or with slow growth velocity.Methods: We report a case of a...

hrp0089p3-p019 | Adrenals and HPA Axis P3 | ESPE2018

Erythrocytosis as First Manifestation of Adrenal Mass

Valenzise Mariella , Cannavo Laura , Zirilli Giuseppina , Iaria Graziella , Lima Mario

Background: Erythrocytosis is characterized by increased number of red blood cells. Primary form is also known as polycythemia vera, while secondary forms can be due to several causes, among which hyperandrogenism. Although the association of severe hyperandrogenism and polyglobulia is known, literature data concerning this comorbidity are overall scanty, and completely lacking in pediatric age.Case report: We report the history of a 14 years-old girl ad...

hrp0089p3-p020 | Adrenals and HPA Axis P3 | ESPE2018

A Neonatal Case with Familial Glucocorticoid Deficiency Type 1 Having Adrenal Crisis in Early Period

Keskin Mehmet , Koklu Esat , Kaplan Emel H Aytac , Karaoglan Murat , Karaer Kadri , Keskin Ozlem

Objective: Familial glucocorticoid deficiency (ACTH resistance); is a rare chronic adrenal insufficiency problem. Genetic tranmission is autosomal recessive. Glucocorticoid deficiency is characterized by increased ACTH levels and normal or partial incomplete aldosterone production. The familial glucocorticoid deficiency, which is a defect in the melanocortin receptor. Hypoglycemia, convulsions, increased pigmentation in the skin can be seen from the earliest stages of life.</p...

hrp0089p3-p021 | Adrenals and HPA Axis P3 | ESPE2018

Presenting Features, Clinical Characteristics and Follow up of Familial Isolated Glucocorticoid Deficiency (FGD) due to Mutations in MC2R and MRAP Genes

Ozbek Mehmet Nuri , Karaşin Nezehat Doğan , Demirbilek Huseyin , Demiral Meliha , Baran Rıza Taner , Guran Tulay

Objectives: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized with isolated glucocorticoid deficiency. Melanocortin receptor 2 (MC2R) mediates the functions of adrenocorticotropic hormone (ACTH) in the adrenal cortex. MC2R accessory protein (MRAP), a transmembrane protein, involves in the trafficking of MC2R to the cell surface. Mutations in MC2R and MRAP genes cause FGD type 1 and 2. Herein, we ev...

hrp0089p3-p022 | Adrenals and HPA Axis P3 | ESPE2018

Identification of X-linked Adrenoleukodystrophy in Boys Presenting with Adrenal Insufficiency in the Absence of Adrenal Antibodies

Ryalls Michael , Gan Hoong-Wei , Biedenkapp Joe , Davison James

Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by genetic deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA) primarily in the adrenal cortex and central nervous system. Approximately 35–40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Disease progress can be halted by allogeneic hematopoietic cell trans...

hrp0089p3-p023 | Adrenals and HPA Axis P3 | ESPE2018

Secondary Hyperaldosteronism in the Course of Cystic Fibrosis

Erazmus Michał , Kucharska Anna

The electrolyte disorders are commonly considered as symptoms of the endocrine diseases concerning the secretion of aldosterone or antidiuretic hormone (ADH). This study is the case report of the 6-month-old girl admitted to the hospital because of the exacerbation of the chronic cough. Failure to thrive and malnutrition was also significant despite the patient’s good appetite reported by parents. She was referred to the department of the paediatric endocrinology due to m...

hrp0089p3-p024 | Adrenals and HPA Axis P3 | ESPE2018

The P30L Mutation in the CYP21A2 Gene in a Girl with Congenital Adrenal Hyperplasia with Hidden Salt Loosing and Central Precocious Puberty

Akulevich Natallia , Boiko Julia , Mirabelli Silvestro , DeLuca Filippo , Wasniewska Malgorzata

In CAH due to 21-OH deficiency, phenotype-genotype correlation is known. However, the same genetic events may cause different clinical forms of the disease. A case of CAH associated with the P30L in the CYP21A2 gene in presented. The Caucasian girl was born normally and growing healthy till the age of 3.y., when her mother noticed pubic hair growth; at the age of 4 she had acne and an increasing sweating. At 6 y. of age, she was brought to paediatric endocrinologist f...

hrp0089p3-p025 | Adrenals and HPA Axis P3 | ESPE2018

Congenital Adrenal Hyperplasia due to a Rare Homozygous Mutation R483P in the CYP21A2 Gene and Coexisting Growth Hormone Deficiency

Akulevich Natallia , Makarava Yulia , Boiko Julia , Mirabelli Silvestro , Wasniewska Malgorzata , DeLuca Filippo

In CAH due to 21-OH deficiency, GH treatment combined to GC and MC replacement is still considered to be experimental. We present a patient who has benefited from such treatment. A baby girl was born in term with clitoromegaly and manifested with salt loose at neonatal period. Low serum morning cortisol and sodium with high potassium and 17-OH levels were found resulted in the clinical diagnosis of CAH. The karyotype was 46,XX. Prednisolone and DOXA, the only available hormone...

hrp0089p3-p026 | Adrenals and HPA Axis P3 | ESPE2018

Rare Case of Androgen Producing Tumor in 14 Month Old Girl

Kheladze Nino , Lundberg Elena , Totogashvili Nino , Tkeshelalashvili Tinatin

Background: Adrenocortical tumors (ACT) are rare in children. Mostly occurs in younger age, before 4 years and predominantly in girls. ACT represents 1.3% of all carcinomas in paediatric age group and 0.2% of all pediatric neoplasms.Case report: 14 month old girl presented with signs of progressive hirsutism started first few months of life. She was referred to our clinic due to suspect diagnosis of virilizing CAH. Physical exams showed virilization in c...

hrp0089p3-p027 | Adrenals and HPA Axis P3 | ESPE2018

Adrenocortical Tumours in Children – A Case Series

Hua Chan Si , Farhad Vasanwala Rashida

Background: Paediatric adrenocortical tumours (ACT) are rare and typically present with virilising symptoms and signs which can be similar to other virilising conditions such as congenital adrenal hyperplasia.Case description: We describe three cases of ACT diagnosed and managed at our institution over the past 10 years. The three girls presented with symptoms of virilisation. The mean interval between first symptoms and diagnosis was 19.6 months (rangin...

hrp0089p3-p028 | Adrenals and HPA Axis P3 | ESPE2018

Discrete Virilization in Girls with the Classic Form of Congenital Adrenal Hyperplasia: the Importance of a Detailed Genital Examination at Birth

Santos Silva Chagas Leticia , Guerra-Junior Gil , Palandi De-Melo Maricilda , Helena Valente Lemos-Marini Sofia

Introduction: Differentiation of the external genitalia depends on serum androgen concentrations in the foetal life. The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most frequent cause of female genital ambiguity. It is an autosomal recessive disorder due to CYP21A2 mutations that are classified in groups based on their in vitro residual enzymatic activity. The phenotype usually is predicted by the less severe mutatio...

hrp0089p3-p029 | Adrenals and HPA Axis P3 | ESPE2018

A New Methodology for Early Identification of Steroid Resistant Acute Graft-Versus-Host Disease Patients

Gillio Alfred , Krajewski Jennifer , Donato Michele , Durning Nancy , Haugh Jeanette , Balboul Sarah , Ghanny Steven

Background: For many patients with high-risk cancers, allogeneic stem cell transplant (SCT) is the only curative option. A major risk of SCT is acute graft versus host disease (aGVHD). About 50% of SCT patients develop aGVHD as a part of their course. Glucocorticoids are the mainstay of therapy in aGVHD patients. Of the patients that develop aGVHD, about 50% develop a steroid refractory/resistant form. These patients tend to require higher doses of steroids and many will requi...

hrp0089p3-p030 | Adrenals and HPA Axis P3 | ESPE2018

Delayed Diagnosis of a Patient with Antley-Bixler Syndrome

Kirkgoz Tarik , Bas Serpil , Yavas Abali Zehra , Turan Serap , Bereket Abdullah , Guran Tulay

Objective: Antley-Bixler syndrome Type 1 (ABS1) is a rare form of craniosynostosis characterized by multiple dysmorphic features, radio-humeral synostosis and urogenital abnormalities due to P450 oxidoreductase (POR) gene mutations. ABS is also associated with adrenal and gonadal failure which are sometimes underrecognized due to predominance of skeletal findings in various clinics. We report a female patient with very characteristic skeletal and facial features of AB...

hrp0089p3-p404 | Adrenals and HPA Axis P3 | ESPE2018

Clinical and Biochemical Phenotype of Aldosterone Synthase Deficiency

Fortsch Katharina , Doing Carsten , Wudy Stefan A , Hartmann Michaela F , Martin Holterhus Paul , Mayatepek Ertan , Reinauer Christina , Meissner Thomas , Kummer Sebastian

Background: Biallelic mutations of the CYP11B2 aldosterone synthase gene cause deficiency of aldosterone synthesis. Patients exhibit isolated deficiency of aldosterone biosynthesis, increased plasma renin activity, increased steroid precursors desoxycorticosterone, corticosterone, as well as 18-hydroxy-desoxycorticosterone, and show salt wasting and poor growth. The aldosterone synthase enzyme has 18-hydroxylase (corticosterone methyloxidase type I, CMO I) and 18-oxidase (CMO ...

hrp0089p3-p414 | Adrenals and HPA Axis P3 | ESPE2018

Is the Third Time Really a Charm? The Story about Three Brothers Suffering from Adrenoleukodystrophy and about HSCT being a Chance to Stop the Unstoppable Disease

Hetman Marta , Kalwak Krzysztof , Barg Ewa

Introduction: Adrenoleukodystrophy (ALD) is a genetic diseases classified in the group of peroxisomal disorders caused by mutations in ABCD1, a gene located on the X chromosome. It is the most common monogenetically inherited neurodegenerative diseases. X-ALD is an inborn error of metabolism characterized by impaired peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) with a heterogeneous clinical spectrum. VLCFA accumulate principally in the CNS...