ESPE Abstracts

ESPE Abstracts

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60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

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The 60th ESPE Annual Meeting will now be taking place in Rome, Italy.

Poster Category 2

Adrenals and HPA Axis

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hrp0095p2-1 | Adrenals and HPA Axis | ESPE2022

An adrenal enigma: adrenal crises following an acquired CMV infection in an immunocompetent infant

Fuchs Shai , Simor Bar

Here we describe a 10 week old previously healthy infant that underwent several severe adrenal crises marked by electrolyte disturbances (K=7.8 Na=128), and cardiorespiratory resuscitation (intubation and pressors). The adrenal insufficiency developed while admitted after developing a short febrile illness, and severe prolonged watery diarrhea, accompanied by development mild hypertransaminasemia and rash. Crises were characterized by elevated Renin 119 mU/l [Ref: 3.4-64], ina...
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hrp0095p2-2 | Adrenals and HPA Axis | ESPE2022

Retrospective cross-sectional study reviewing local practice in assessment of adrenal axis at a tertiary children’s hospital

Hester Holly , Hachemi Soraya , Amin Nadia , Alvi Sabah

Introduction: There is considerable variation in practice when assessing adrenal function in adrenal insufficiency; duration of glucocorticoid defined to confer risk, early morning cortisol assay (EMC), Synacthen test (ST) - both low dose (LDST) (1microgram) or standard dose (SDST) (36microgram/kg [maximum 250micrograms]) and symptomatology. At our tertiary children’s hospital, even between departments, there is variation in those identified as being at ...
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hrp0095p2-3 | Adrenals and HPA Axis | ESPE2022

A Rare Cause of Peripheral Precocious Puberty

Çakır Gündoğan Seçil , Kılınç Uğurlu Aylin , Özdemir Gökçe Ayşe , Özyörük Derya , Yardımcı Gönül , Kasap Yusuf , Karakuş Esra , Sarı Neriman , Seçil Ekşioğlu Ayşe , Ölçücüoğlu Erkan , Boyraz Mehmet

Introduction: Peripheral precocious puberty is a non-gonadotropin-dependent early pubertal development. Exogenous intake of sex steroids, gonadal or adrenal pathologies, ectopic hCG-secreting lesions play a role in the etiology. Adrenal tumors is a rare cause of heterosexual precocious puberty.Case: An eight-year-old female patient was admitted with the complaints of genital hair growth and breast enlargement. The patien...
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hrp0095p2-4 | Adrenals and HPA Axis | ESPE2022

The utility of random cortisol in identifying neonatal primary adrenal insufficiency.

Pyle-Eilola Amy , Chaudhari Monika , Bulan Ayse , Mamilly Leena , Henry Rohan

While it has been established that within the first 4 months of life there is an absence of the circadian rhythm guiding cortisol secretion, it remains unclear if a random serum cortisol (rSC) level is useful in diagnosing neonatal primary adrenal insufficiency (PAI). The objective of this study is to determine the utility of rSC in determining PAI within the first 4 months of life. This is a retrospective chart review of subjects who had rSC collection and high dose cosyntrop...
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hrp0095p2-5 | Adrenals and HPA Axis | ESPE2022

Prevalence and genotype of 21-hydroxylase deficiency in Croatian Romani population

Dumic Kubat Katja , Grubic Zorana , Kusec Vesna , Braovac Duje , Gotovac Kristina , Vinkovic Maja , Dumic Miroslav

Objective: Clustering of rare diseases and private founder mutations is a common phenomenon in many founder populations such as Romani. Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to estimate the prevalence of 21-OHD and the frequency of particular CYP21A2 gene mutations in the Croatian Romani population. Methods. Data f...
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hrp0095p2-6 | Adrenals and HPA Axis | ESPE2022

High carrier frequency of a nonsense p.W230X variant in HSD3B2 gene among Ossetians

Makretskaya , Kalinchenko Natalia , Tebieva Inna , Ionova Sofya , Marakhonov Andrey , Tiulpakov Anatoly , Zinchenko Nina Rena

Background: Congenital adrenal hyperplasia (CAH) caused by 3ß-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. We have previously demonstrated that a single nucleotide variant NM_000198.3:c.690G>A (P.W230X) in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.Aims: To stud...
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hrp0095p2-7 | Adrenals and HPA Axis | ESPE2022

Suboptimal cortisol response on ITT and subsequent adrenal insufficiency

Boyle Roisin , Sanderson Jennifer , Purton Daniel , Angela Lucas-Herald , McNeilly Jane , Mason Avril , Wong Jarod , Guftar M Shaikh , Ahmed Faisal

Background: Insulin Tolerance tests (ITT) have long been considered the gold standard for dynamic function testing of the hypothalamo-pituitary-adrenal (HPA) axis. Sub-optimal cortisol responses during an ITT in children may be found in children during ITT without a previous clinical suspicion of Adrenal insufficiency (AI). It is not clear what the clinical significance of this is and whether all of these children require formal synacthen testing.<p class=...
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hrp0095p2-8 | Adrenals and HPA Axis | ESPE2022

An Unusual Case of Histiocytosis Presenting as Bilateral Adrenal Masses

Dreimane Daina , Bullock Julianne

Objectives: We describe an unusual presentation of Histiocytosis in a 17 year old female with a large lung mass, and bilateral adrenal masses.Methods: Case reportResults: A 17-year-old female presented with chest pain, as well as several weeks history of fatigue, decreased appetite, a dry cough and unintentional weight loss. No history of fevers or night sweats. Her vital signs and...
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hrp0095p2-9 | Adrenals and HPA Axis | ESPE2022

Thrombocytosis as a Rare Manifestation in Salt Wasting Congenital Adrenal Hyperplasia: A Case Report

Novina Novina , Aprimadhansari Aprimadhansari , Nurfandi Wendi , Sunhaya Ratna , Saraswati Citra , Oktavianus Trisaputra Jessica

Introduction: Congenital adrenal hyperplasia (CAH) has an incidence of 1:14 000 to 1:18 000 worldwide. It is caused by autosomal recessive gene mutations. Neonates typically present with virilization at birth, or in shock, ‘salt-losing crisis’, around days 10–14 of life. Some children present later with simple virilizing CAH, often with milder compound heterozygous mutations. Reactive thrombocytosis is a rare manifestation in CAH. Gasparini <...
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hrp0095p2-10 | Adrenals and HPA Axis | ESPE2022

Long-term Outcomes for Ninety-four Boys with Central Precocious Puberty or Early and Fast Puberty in Chinese Boys

Chen Zhixin , Chen Qiuli , Li Yanhong , Ma Huamei , Zhang Jun , Guo Song

Objective: To assess the efficacy and influential factors of GnRHa treatment for Chinese CPP/EFP boys.Methods: From April, 1994 to June, 2020, 94 boys diagnosed with CPP or EFP who had reached the final adult height were retrospectively included. Among these patients, 41 patients received no treatment, 43 patients received GnRHa treatment alone and 10 patients received GnRHa + GH treatment. The final adult height and the...
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hrp0095p2-11 | Adrenals and HPA Axis | ESPE2022

Differences in The Management of Classic Childhood Congenital Adrenal Hyperplasia in Spain According to A Patients Association

Murillo-Vallés , Valls-Llussà Aina , Martinez-Couselo Silvia , Salinas-Vert Isabel , de Diego-Suarez Marta Marta

Objective: Despite published guidelines, there is no single approach to management in congenital adrenal hyperplasia (CAH). The objective of the study was to explore the variations in treatment for CAH in Spain.Material and methods: A retrospective study in a single center was done analyzing the data provided by patients and relatives through the Spanish Association of CAH from a online survey of 25 questions. It was dif...
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hrp0095p2-12 | Adrenals and HPA Axis | ESPE2022

Trends in diagnostics and treatment of congenital adrenal hyperplasia

Milenković Jana , Milenković Tatjana , Sedlecki Katarina , Kojović Vladimir , Ilić Predrag , Martić Jelena , Todorović Slađana , Mitrović Katarina , Marjanović Marko , Tončev Jovana , Panić-Zarić Sanja , Vuković Rade

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases caused by a deficiency of enzymes responsible for the steroidogenesis. The most common cause is 21-hydroxylase deficiency. There are three forms of CAH due to 21-hydroxylase deficiency: the classic form with salt loss, the classic virilizing and the non-classical form. In pediatric age, CAH is most often manifested by masculinization of the genitals of female newborns, adrenal crisis or premature p...
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hrp0095p2-13 | Adrenals and HPA Axis | ESPE2022

Failure to Thrive as A Manifestation of Neonatal Cushing.

Isabel Scheidt Maria , de Assis Galan Camila , Cristina Pedroso de Paula Leila , da Costa Rodrigues Ticiana , Antonio Czepielewski Mauro , Guaragna Filho Guilherme

Failure to thrive is a term used to describe inadequate growth or the inability to maintain growth, which usually occurs in early childhood. Case report: female patient, 7 months old, referred to the pediatric clinic of Hospital de Clínicas de Porto Alegre due to a possible syndromic condition. He had no diagnosed comorbidity to date and was using only prophylactic ferrous sulfate and vitamin D. No family history of similar illness. Physical examination showed hypertric...
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hrp0095p2-14 | Adrenals and HPA Axis | ESPE2022

The first case of pediatric Cushing disease in Serbia

Panic Zaric Sanja , Vukovic Rade , Milenkovic Tatjana , Mitrovic Katarina , Todorovic Sladjana , Ristic Snezana , Stajic Natasa , Putnik Jovana , Paripovic Aleksandra , Vukomanovic Vladislav , Ninic Sanja , Prijic Sergej , Popovic Sasa , Cerovic Ivana , Kitic Ivana , Pasic Srdjan , Minic Predrag , Rodic Milan , Kuzmanovic Milos , Jovic Milena , Djordjevic Milosevic Maja , Pekic Djurdjevic Sandra , Petakov Milan , Milicevic Mihajo , Jovanovic Milan

Background: The definition of Cushing disease (CD) is hypercortisolism caused by excess adrenocorticotropic hormone (ACTH) secretion by a pituitary corticotrope adenoma. It is extremely rare in the pediatric population and requires rapid diagnosis and early management.Case presentation: A 14-year old boy was hospitalized because of sudden onset of chest pain, loss of consciousness, elevated cardio-specific enzymes, and s...
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hrp0095p2-15 | Adrenals and HPA Axis | ESPE2022

Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency

Ata Aysun , Anlaş Özlem , Özalp Özge

Introduction: The aldosterone synthesis is dependent on aldosterone synthase (AS), an enzyme encoded by the CYP11B2gene, one of the cytochrome P450 enzymes (P450c11Aldo). It catalysis the final steps of adosterone biosynthesis.Case: A 10 days old boy is presented with poor feeding, jaundice and weight lost. He was born from a 35 years old mother, as 4 th children, from consanguineous parents. One sister and one brother o...
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hrp0095p2-16 | Adrenals and HPA Axis | ESPE2022

Adrenocortical tumor: a rare tumor in children. Report of 2 infants presented with precocious pubarche and rapid growth.

Almutlaq Mohammad

Adrenocortical carcinoma is very rare in children, with annual incidence of 0.21 case per million patient younger than 20 years. At this article I reported two patients. First case was A 16-month-old girl presented with 3 months history of increased appetite and rapid weight gaining, appearance of hair at pubic area for 2 months and acne on face for one-month duration. Parents are non-consanguineous, had no endocrine disorders or tumors. On examination: chubby baby, cushingoid...
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hrp0095p2-17 | Adrenals and HPA Axis | ESPE2022

Adrenal Dysfunction in Omani Children Live with Transfusion Dependent Beta-Thalassemia: A Routine Assessment is Recommended.

AlHousni Samira , AlMamari Ruwaya , Samara Walaa , Wali Yasser , Alsaffar Hussain

Introduction: Thalassemia is an autosomal recessive inherited disease that requires frequent blood transfusion. The life expectancy of thalassaemic children improved with regular blood transfusion and chelating agents. Hemosiderin precipitation in endocrine glands of patient with Transfusion Dependant Thalassaemia (TDT) leads to progressive gland dysfunction. The adrenal insufficiency is one of the complications that results from iron deposition either in the ...
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hrp0095p2-18 | Adrenals and HPA Axis | ESPE2022

Bilateral Adrenal Hemorrhage As a Cause of Pediatric Acute Abdominal Pain

Gil Poch Estela , Javier Arroyo Díez Francisco

Introduction: Bilateral adrenal hemorrhage is a rare pathology, contrary to what happens with unilateral ones. It is more common in newborns and associated with situations of perinatal hypoxia, sepsis, traumatic births, or coagulation abnormalities. The classic triad includes jaundice, anemia, and a flank mass, which can lead to severe shock. Extensive bilateral hemorrhage is required to produce a situation of adrenal insufficiency. The diagnosis is made by im...
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hrp0095p2-19 | Adrenals and HPA Axis | ESPE2022

A case series on Adrenal Cortical Tumors in Children, Experience from Colombo, Sri Lanka

Naotunna Randika , Siriwardana Dinendra , Gamage Senani , Lakmini Chamila , Gunaratna Sadani , Atapattu Chamidri Navoda

Introduction: Paediatric adrenocortical tumors (ACT) include both benign adenomas and highly virulent malignant tumors. However, it is very rare among children. The aim of this study is to evaluate the clinicopathological data of children presented with ACT and to assess the survival.Methods: This is a retrospective cohort study which includes patients diagnosed with ACT from August 2020 to July 2021 and followed up at L...
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hrp0095p2-20 | Adrenals and HPA Axis | ESPE2022

Autoimmune Polyglandular Syndrome Type 2: Two Different Applications

Derya Bulus Ayse , Yasartekin Yuksel , İnözü Mihriban

Autoimmune polyglandular syndrome (APS), on the other hand, is a cluster of endocrine disorders resulting from immune dysregulation, often accompanied by damage to non-endocrine organs. There are 2 types of APS: type 1 and type 2 (APS-1 and APS-2). Type 2 APS is characterized by the development of organ- and tissue-specific antibodies. In those with Addison's disease, antibodies to the 21-hydroxylase enzyme found in the adrenal cortex are present in more than 90% of patie...
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hrp0095p2-21 | Adrenals and HPA Axis | ESPE2022

Abstract Withdrawn...
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hrp0095p2-22 | Adrenals and HPA Axis | ESPE2022

Two Familial Cases of Congenital Adrenal Hyperplasia Combined or Complicated with Central Precocious Puberty

Markosyan Renata , Aghajanova Yelena

Central precocious puberty (CPP) may be secondary to congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency. CPP in CAH may be associated with elevated sex-steroid levels and possibly a decline in negative sex-steroid feedback after treatment initiation. We experienced the two family cases of the salt-wasting form of the CAH, complicated by CPP with early maturation of the hypothalamic-pituitary-gonadal axis in all patients from two families.<p class="abste...
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hrp0095p2-23 | Adrenals and HPA Axis | ESPE2022

Primary pigmented nodular adrenocortical disease in a young boy associated with a rare somatic mutation of the PRKACA: case report and literature review

Xu Yu-ying , Li Yan-hong , Chen Qiu-li , Ma Hua-mei , Zhang Jun , Guo Song

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...
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hrp0095p2-24 | Adrenals and HPA Axis | ESPE2022

Long-Term Follow-Up of a Case with Clinical Image Syndrome

Okur Iclal , Arasli-Yilmaz Aslihan , Elmaogullari Selin , Karacan-Kucukali Gulin , Keskin Meliksah , Muratoglu-Sahin Nursel , Kurnaz Erdal , Savas-Erdeve Senay , Cetinkaya Semra

Introduction: IMAGE Syndrome (#614732) is an autosomal dominant inherited syndrome as a result of CDKN1C mutation characterized by the association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Here, long-term follow-up of a case with clinical IMAGE syndrome, no genetic mutation was detected, will be presented.Case: A three-month-old baby boy was brought wi...
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hrp0095p2-25 | Adrenals and HPA Axis | ESPE2022

Premature adrenarche: A common disease with a novel presentation

Raafat Shaymaa

Introduction: Premature adrenarche refers to appearance of pubic hair and sometimes axillary hair before eight and nine years in girls and boys respectively. The most constant sign is the appearance of pubic/axillary hair. Furthermore, other signs of androgen effect (adult type body odor, acne, greasy hair, accelerated statural growth) are valuable to complete the diagnosis. However, it is important to be mentioned that no virilization signs are associated wit...
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hrp0095p2-26 | Adrenals and HPA Axis | ESPE2022

3 β-Hydroxysteroid Dehydrogenase Deficiency, Rare in the Diagnosis of Congenital Adrenal Hyperplasia: A Case Report

Derya Bulus Ayse , Yasartekin Yuksel , Guran Tülay

A defect in one of the 5 enzymes related to the cortisol biosynthesis pathway (cholesterol side chain degradation enzyme, 3-beta-hydroxysteroid dehydrogenase, 17-hydroxylase, 21-hydroxylase and 11-hydroxylase) is responsible for the formation of KAH. Congenital Adrenal Hyperplasia (CAH) is seen in newborn babies with a frequency of 1/10,000-16,000. The most common 21 hydroxylase enzyme deficiency. 3-β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of ...
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hrp0095p2-27 | Adrenals and HPA Axis | ESPE2022

It is Not Always A Piece of Cake!!

Diab Dina , Sayed Shaymaa El , Marzouq Iman , El Neely Dalia , Alaa Thabet Dalia , Awaa Ahmed El

Introduction: Congenital lipoid adrenal hyperplasia (lipoid CAH), is a rare subtypes of adrenal hyperplasia yet the most fatal form, which seriously disrupts adrenal and gonadal steroidogenesis by a defect in the conversion of cholesterol to pregnenolone. Affected patients show salt loss from impaired mineralocorticoid and glucocorticoid synthesis. The defect in lipoid CAH is mainly in the steroidogenic acute regulatory protein (StAR), which promotes entry of ...
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