Previous issue | Volume 94 | ESPE2021

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

ePoster Category 2

Adrenals and HPA Axis

hrp0094p2-1 | Adrenals and HPA Axis | ESPE2021

Circadian rhythm of salivary cortisol and cortisone in school-aged children born very preterm and adequate for gestational age

Ochoa Maria Fernanda , Dominguez Gonzalo , Poggi Helena , Martinez Alejandro , Moore Rosario , Garcia Hernan , D’apremont Ivonne , Allende Fidel , Solari Sandra , Campino Carmen , Fardella Carlos , Baudrand Rene , Carvajal Cristian ,

Introduction: Higher evening cortisol level has been previously described in very preterm infants, possibly reflecting increased Hypothalamic-Pituitary-Adrenal Axis (HPA) tone or alterations in HPA regulation throughout the day. These relatively subtle differences in HPA axis function in preterm compared to full-term children may become meaningful in terms of metabolic risk later in life if sustained over time. Still, only a few studies have investigated wheth...

hrp0094p2-2 | Adrenals and HPA Axis | ESPE2021

How do urine steroid metabolites of spot samples correlate with 24 hour urine specimens in children with congenital adrenal hyperplasia?

Sommer Grit , Abawi Ozair , Groessl Michael , Halbsguth Ulrike , Charmandari Evangelia , Akker Erika L.T. van den , Fluck Christa E. ,

Introduction: Steroid profiling in children with congenital adrenal hyperplasia (CAH) is used to monitor the balance between androgen and cortisol metabolites and to decide on the optimal glucocorticoid dosage. Twenty-four hour collection is the gold standard for measurement of steroid metabolites in urine, because steroid production follows a circadian rhythm and is influenced by short-term stress and steroid drugs. For some children, e.g. those who were diap...

hrp0094p2-3 | Adrenals and HPA Axis | ESPE2021

Endocrine-disrupting chemicals: an often-forgotten etiology of endocrinological disturbances

Lemos Ana Pereira , Duarte Mariana , Galhardo Julia , Lopes Lurdes ,

Background: Endocrine disruptors (ED) are chemicals that can mimic hormones and interfere with their receptors, causing endocrinological abnormalities.Clinical report: We present the case of a previously healthy, melanodermic, two-year-old female, who had a three-month evolution of clitoromegaly and generalized hypertrichosis. Endocrine blood work showed suppressed serum androgens suggesting steroid exogenous contact. Karyotype, bone age...

hrp0094p2-4 | Adrenals and HPA Axis | ESPE2021

Serum Sex Hormone Binding Globulin Levels, But Not 4-Hour Profile of 17-Oh Progesterone, Would Be Useful in Monitoring Children with Congenital Adrenal Hyperplasia

Besci Ozge , Erbas Ibrahim Mert , Kume Tuncay , Acinikli Kubra Yuksek , Abacı Ayhan , Bober Ece , Demir Korcan ,

Background: There exists no gold standard for adjustment of treatment in congenital adrenal hyperplasia. Clinicians try to avoid over-and undertreatment by considering various indicators. We aimed to investigate the sampling times of 17-hydroxyprogesterone (17-OHP) and the use of sex hormone-binding globulin (SHBG) as a monitoring parameter, the association of which was not studied with clinical features. Materials and Methods: This cross-sectional study inclu...

hrp0094p2-5 | Adrenals and HPA Axis | ESPE2021

Glucocorticoid side-effects in Duchenne Muscular Dystrophy: Systematic review of side effects in published literature and a survey of the concerns of the patient community

Hariri Caleb , Choong Wong Sze ,

Background: Long-term use of glucocorticoid for management of Duchenne muscular dystrophy (DMD) has been standard of care for over 20 years with documented improvement in outcomes. Side-effects are common particularly endocrine and bone adverse effects. To date, there is limited information on the perception of glucocorticoid side effects by parents/guardians and those living with DMD.Aims:• To identify glucoc...

hrp0094p2-6 | Adrenals and HPA Axis | ESPE2021

Single centre experience of Hydrocortisone Granules (Alkindi) in children under 6 years of age with Adrenal Insufficiency

Snow Claire , Owen Catherine ,

Introduction: Children with Adrenal insufficiency (AI) are usually managed with glucocorticoid replacement as hydrocortisone. Treatment options in younger patients include administering an aliquot of 10mg hydrocortisone tablets dissolved in water. However, this is time consuming and may be inaccurate. We describe our experience of using Alkindi (www.diurnal.co.uk), the first hydrocortisone preparation licensed for children with AI.<stron...

hrp0094p2-7 | Adrenals and HPA Axis | ESPE2021

Emotion regulation in congenital adrenal hyperplasia

van’t Westeinde Annelies , Zimmermann Marius , Savic Ivanka , Lajic Svetlana ,

Objective: Oral hydrocortisone medication for Congenital Adrenal Hyperplasia (CAH) could lead to suboptimal blood cortisol levels throughout the day. In addition, the HPA-axis is rendered inflexible in patients. Cortisol is crucially involved in the stress response as well as in generating and regulating emotional responses to stimuli. Sub-optimal cortisol levels, in combination with a less flexible HPA-axis, could therefore lead to problems with emotion regul...

hrp0094p2-8 | Adrenals and HPA Axis | ESPE2021

High-dose steroids in the management of Paediatric Multisystem Inflammatory Syndrome Temporally associated with SARS-CoV-2 (PIMS-TS): Considering the hypothalamic-pituitary-adrenal axis

McGlacken-Byrne Sinead M , Johnson Mae , du Pre Pascale , Katugampola Harshini ,

Background: Steroid therapy has been used as a therapeutic strategy in the management of Paediatric Multisystem Inflammatory Syndrome Temporally associated with SARS-CoV-2 (PIMS-TS) with good effect. However, as always, exogenous steroid administration carries with it a risk of iatrogenic adrenal insufficiency.Aim: We characterise steroid therapy use in PIMS-TS and consider implications for hypothalamic-pituitary-adrenal...

hrp0094p2-9 | Adrenals and HPA Axis | ESPE2021

Variability of advice and education for steroid sick day dosing in Duchenne Muscular Dystrophy and the impact of the COVID-19 pandemic: Results of a UK wide patient survey

Thakrar S , Cheung MS , Johnson A , Katugampola H , Manzur A , Muntoni F , Mushtaq T , Turner C , Wood C , Guglieri M , Wong SC ,

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

hrp0094p2-10 | Adrenals and HPA Axis | ESPE2021

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Yatsuga Shuichi , Amano Naoko , Nakamura-Utsunomiya Akari , Kobayashi Hironori , Takazawa Kei , Nagasaki Keisuke , Nakamura Akie , Nishigaki Satsuki , Numakura Chikahiko , Fujiwara Ikuma , Minamitani Kanshi , Hasegawa Tomonobu , Tajima Toshihiro ,

Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis that causes various symptoms such as skeletal malformations, disorders of sex development, and adrenal insufficiency. The aim of this study was to elucidate the clinical characteristics, especially age at diagnosis and treatment, of PORD from the perinatal period to adulthood in Japan. The first questionnaire was sent to 183 council members of the Japanese Society for Pediatric Endocrinology on 1...

hrp0094p2-11 | Adrenals and HPA Axis | ESPE2021

Rare Presentation of Adrenal Insufficiency in an Infant with Holocarboxylase Synthetase Deficiency

Al-Farsi Aws , Qureshi Tabinda Naz , Ullah Irfan , Al-Rahbi Najwa , Abdwani Raghad Al , Al-Musalhi Buthaina , Al-Thihl Khalid , Al-Shidhani Azza , Alsaffar Hussain ,

Introduction: Adrenal insufficiency can be caused by different factors. Biotin deficiency is either nutritional or related to synthesis/recycling defects. We are reporting a rare case of adrenal insufficiency complicating a late diagnosis of holocarboxylase synthetase deficiency in an infant who also had protein-S-deficiency, later thought to be secondary.Case: Term female infant born, to non-consanguineous parents, in good condition wit...

hrp0094p2-12 | Adrenals and HPA Axis | ESPE2021

Defective Cortisol Secretion in Response to Spontaneous Hypoglycemia but Normal Cortisol Response to ACTH stimulation in neonates with Hyperinsulinemic Hypoglycemia (HH).

Ahmed Shayma , Soliman Ashraf , Alyafie Fawzia , Alaaraj Nada , Hamed Noor , Farag Marwa ,

Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is the most common cause of recurrent and persistent hypoglycemia in the neonatal period. Cortisol and GH play an important role as counterregulatory hormones during hypoglycemia. Both antagonize the peripheral effects of insulin and directly influence glucose metabolism.Patients and Methods: We studied cortisol and GH secretion in newborn infants with HH during spontaneous hypoglycemia....

hrp0094p2-13 | Adrenals and HPA Axis | ESPE2021

Utilisation Of The I-CAH Registry As A Tool For Facilitating Health Quality Improvement Strategies- Results Of An International Survey Of Specialist Centres

Ali Salma R. , Bryce Jillian , McMillan Martin , O’Connell Michele , Davies Justin H. , Ahmed S. Faisal ,

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry (www.i-cah.org) (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

hrp0094p2-14 | Adrenals and HPA Axis | ESPE2021

Clinical and hormonal evolution of aldosterone synthase deficiency: Is complete remission possible?

Gurpinar Tosun Busra , Demirkol Yasemin Kendir , Menevse Tuba Seven , Kaygusuz Sare Betul , Ozbek Mehmet Nuri , Altincik Selda Ayca , Mammadova Jammala , Cayir Atilla , Doger Esra , Bayramoglu Elvan , Nalbantoglu Ozlem , Mutlu Gul Yesiltepe , Aghayev AghaRza , Turan Serap , Bereket Abdullah , Guran Tulay ,

Background: Aldosterone synthase de&filig;ciency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. Data is scarce regarding clinical and biochemical outcomes of the disease in the follow-up.Objective: Assessment of the growth and steroid profiles of patients with ASD at the time of diagnosis and after termination of treatment.Design an...

hrp0094p2-15 | Adrenals and HPA Axis | ESPE2021

Clinical and metabolic characteristics of hyperandrogenic girls with non-classic congenital adrenal hyperplasia and polycystic ovary syndrome

Karamfilova Teodora , Galcheva Sonya , Mladenov Vilhelm , Boyadzhiev Veselin , Bazdarska Yuliya , Yordanova Nikolinka , Iotova Violeta ,

Background: Non-classic congenital adrenal hyperplasia (NCCAH) and polycystic ovary syndrome (PCOS) present with similar hyperandrogenic symptoms in adolescent girls and may be associated with the development of cardiometabolic disorders.Aim: The purpose of the study was to evaluate the prevalence and the association between the clinical and biochemical parameters of hyperandrogenism and metabolic disorders in girls with...

hrp0094p2-16 | Adrenals and HPA Axis | ESPE2021

Rapid clearance of hydrocortisone as a cause of poor control of CAH detected by 24-hour profiling of hydrocortisone concentrations.

Iordanidou Aikaterini , Ong Ken , Hindmarsh Peter , Gevers Evelien ,

Introduction: Hydrocortisone (HC) has a short half-life and individualization of treatment is required for optimal treatment of CAH, balancing between under- and overtreatment. Twenty four hour profiling of HC concentrations has shown large interindividual variation in clearance of HC and therefore has been used to individualize treatment. We present a severely virialized girl with CAH, in whom high doses of steroids failed to suppress androgen production thou...

hrp0094p2-17 | Adrenals and HPA Axis | ESPE2021

A prospective study of children 0-8 years with congenital adrenal hyperplasia and adrenal insufficiency on treatment with hydrocortisone granules monitored by 17-OHP saliva sampling

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

Context: Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) require hydrocortisone replacement from birth. Continuous monitoring of therapy during growth is necessary. Until now, children were dependent on off label use with divided hydrocortisone tablets or pharmacy compounded capsules. A licensed paediatric formulation that allows accurate dosing down to 0.5mg is now available.Objective: ...

hrp0094p2-18 | Adrenals and HPA Axis | ESPE2021

Cushing’s disease treatment results correlation with pituitary MRI in children

Yanar Eda , Makazan Nadezhda , Kareva Maria , Vorontsov Alexandr , Vladimirova Victoria , Peterkova Valentina ,

Objective: Transsphenoidal surgery (TSS) is a treatment of choice for Cushing&grave;s disease (CD), whose effectiveness range is from 70 to 90%. Recurrence rate after successful treatment is about 25%. Preoperative predictors of remission and recurrence are still unexplored what leads to further investigations.Aim: Analysis of remission and recurrence rates of CD after radical treatment according to preoperative MRI....

hrp0094p2-19 | Adrenals and HPA Axis | ESPE2021

Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years

Buonocore Federica , Maharaj Avinaash , Qamar Younus , Koehler Katrin , Suntharalingham Jenifer P. , Chan Li F. , Ferraz-de-Souza Bruno , Hughes Claire R. , Lin Lin , Prasad Rathi , Allgrove Jeremy , Andrews Edward T. , Buchanan Charles R. , Cheetham Tim D. , Crowne Elizabeth C. , Davies Justin H. , Gregory John W. , Hindmarsh Peter C. , Hulse Tony , Krone Nils P. , Shah Pratik , Shaikh Mohamad G. , Roberts Catherine , Clayton Peter E. , Dattani Mehul T. , Thomas N. Simon , Huebner Angela , Clark Adrian J. , Metherell Louise A. , Achermann John C. ,

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

hrp0094p2-20 | Adrenals and HPA Axis | ESPE2021

Panhypopituitarism after treatment procedures in pituitary-hypothalamic area – a single center experience

Bazdarska Yuliya , Iotova Violeta , Galcheva Sonya , Halvadzhiyan Irina , Yordanova Nikolinka , Kondev Toni , Enchev Yavor ,

Background: The most common conditions requiring surgery or radiation therapy of the sella and suprasellar area in childhood are craniopharygiomas and pituitary adenomas. Therapeutic procedures involving pituitary gland often lead to multiple hormonal deficiencies, and experienced multidisciplinary team following guidelines and applying systematic approach could improve outcomes.Aim: To evaluate hormonal replacement ther...

hrp0094p2-21 | Adrenals and HPA Axis | ESPE2021

The reliability of Salivary Cortisol compared to Serum Cortisol for diagnosing adrenal insufficiency in the gold standard ACTH stimulation test in children

Ciancia Silvia , van den Berg Sjoerd A.A. , van den Akker Erica L.T. ,

Introduction: The gold standard for the diagnosis of adrenal insufficiency (AI) is the ACTH stimulation test. According to the guidelines approved by the European Endocrine Society, the ACTH stimulation test should be performed with the administration of the standard dose of i.v. Synachten® 250 µg for adults and children aged ≥ 2 years (infants should receive 15 µg/kg, children ≤ 2 years 125 µg). In many clinical settings a Syna...

hrp0094p2-22 | Adrenals and HPA Axis | ESPE2021

Prevalence of adrenal insufficiency (AI) requiring treatment with hydrocortisone in children tested with the LDSST

Park Julie , Selvarajah Bhavana , Titman Andrew , Blair Joanne ,

Synacthen tests are used widely in paediatric practice for diagnosis of AI. The standard dose test may be more specific and low dose test (LDSST), more sensitive. The LDSST requires dilution of commercially available Synacthen, which may result in unreliable dosing and over diagnosis of AI.Aim: To determine the prevalence of AI requiring treatment with hydrocortisone (a) daily (peak cortisol <350nmol/l) (b) on sick days only (peak co...

hrp0094p2-23 | Adrenals and HPA Axis | ESPE2021

Serum cortisol and cortisone, and urinary cortisol, cortisone, and tetrahydro-metabolites concentrations in school-aged children born very preterm adequate for gestational age

Dominguez-Menendez Gonzalo , Ochoa-Molina Maria Fernanda , Poggi Mayorga Helena , Allende Sanzana Fidel , Solari Guajardo Sandra , Fardella Bello Carlos E. , Carvajal Cristian A. , Campino Johnson Carmen , Baudrand Biggs Rene , Garcia Bruce Hernan , Moore Valdes Rosario , D’apremont Ormeno Ivonne , Martinez-Aguayo Alejandro ,

Introduction: Cortisol homeostasis dysregulation has been associated to essential hypertension in adults. Higher levels of cortisol have been described in preterm-born individuals, who have also a higher risk of hypertension at younger ages. Several enzymes modulate peripheric cortisol metabolism. The 11b-hydroxysteroid dehydrogenase (11b-HSD) type 2 metabolizes cortisol into cortisone, preventing mineralocorticoid receptors’ activation by cortisol. The i...

hrp0094p2-24 | Adrenals and HPA Axis | ESPE2021

The incidence and presentation of congenital adrenal hyperplasia in an unscreened population

Anne Conlon Tracey , Patrick Hawkes Colin , Brady Jennifer , Patricia Murphy Nuala ,

Background: Newborn screening for congenital adrenal hyperplasia (CAH) has been shown to reduce time to diagnosis, and thus morbidity and mortality. Internationally, newborn screening for CAH continues to expand and screening techniques have improved, with the implementation of second-tier testing and use of gestational age stratification. The aim of this study was to examine the incidence and spectrum of early clinical presentations of CAH in an unscreened po...

hrp0094p2-25 | Adrenals and HPA Axis | ESPE2021

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency

Kurnaz Erdal , Baykan Emine Kartal , Turkyılmaz Ayberk , Yaralı Oğuzhan , Yavaş Abalı Zehra , Turan Serap , Bereket Abdullah , Cayır Atilla , Guran Tulay ,

Context: Steroid 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol, and excessive mineralocorticoid action. The clinical symptoms of hypocortisolemia are subtle.Aim: The clinical, biochemical, and molecular characteristics of patients with 17OHD were evaluated to determine the factors influencing the time of diagnosis and the management.Pati...

hrp0094p2-26 | Adrenals and HPA Axis | ESPE2021

Testicular adrenal rest tumour in children with classical congenital adrenal hyperplasia: A case series.

Peng Cheng Hooi , Sze Lyn Wong Jeanne , Suffian Hassim Mohamad , Arliena Mat Amin Noor , Selveindran Nalini M , Guang Gan Cheng , Teik Teoh Sze , Anand L Alexis , Hua Hong Janet Yeow ,

Introduction: Testicular adrenal rest tumour (TART) is a complication in males with congenital adrenal hyperplasia (CAH). However, the prevalence, risk factors and treatment in children are not clear.Objective: 1) To identify the incidence of TART and risk factors in patients with classical CAH in our centre 2) To study the clinical characteristics, hormonal profile, treatment interventions and outcome of patients with T...

hrp0094p2-27 | Adrenals and HPA Axis | ESPE2021

High doses op’-DDD cause metrorragia in young girls

Thomas-Teinturier Cecile , Bouvattier Claire , Linglart Agnes ,

Gynecomastia is a well-known effect of treatment with op’-DDD in male adults. Metrorragia in young girls is a less known effect because only a few children receive this drug, mostly for bad prognosis adrenocortical carcinoma. Moreover, it has been reported that op’DDD causes precocious puberty, but cases are not well documented. We report 2 cases of young girls receiving high-dose op’-DDD who presented recurrent metrorragia. Case 1: An 18 month old girl was diag...

hrp0094p2-28 | Adrenals and HPA Axis | ESPE2021

An Adolescent Case With Adrenoleukodystrophy Diagnosed After Detection Of Leydig Cell Dysfunction

Okur Iclal , Cetinkaya Semra , Elmaogullari Selin , Kilic Mustafa , Yuksel Deniz , Emine Derinkuyu Betul , Karacan-Kucukali Gulin , Sakar Merve , Guleray-Lafci Naz , Savas-Erdeve Senay ,

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...

hrp0094p2-29 | Adrenals and HPA Axis | ESPE2021

Fludrocortisone is the salvage treatment in cases with calcineurin inhibitor related hyperkalemia

Unsal Yagmur , Baltu Demet , Gulhan Bora , Visal Okur Fatma , Duzova Ali , Ozon Alev , Topaloğlu Rezan , Gonc Nazlı ,

Calcineurin inhibitors (CNIs) are widely used in pediatric transplantation for prevention of graft rejection, prophylaxis and treatment of graft versus host disease. Though hyperkalemia is a common adverse effect (10-45%), alterations in renin-angiotensin-aldosterone system in CNI-induced hyperkalemia are not well elucidated. Consequently, CNIs vital to transplantation are usually switched. Here, we describe two cases with CNI-induced hyperkalemia due to hyporeninemic hypoaldo...

hrp0094p2-30 | Adrenals and HPA Axis | ESPE2021

Development of a novel weight-based steroid emergency plan for patients with Duchenne Muscular Dystrophy

Tollerfield Sally , Atterbury Abigail , Antell Hannah , Craig Sian , Smith Natalie , Sarkozy Anna , Manzur Adnan , Hoskins Steve , Amin Rakesh , Dattani Mehul , Katugampola Harshini ,

Background: Long-term glucocorticoid therapy with Prednisolone or Deflazacort has improved outcomes in patients with Duchenne Muscular Dystrophy (DMD), however recommended dosages suppress the hypothalamic-pituitary-adrenal axis, leading to adrenal insufficiency. All boys prescribed glucocorticoid therapy should be assumed to have adrenal suppression, and therefore at risk of adrenal crisis during illness or stress (eg. surgery, bisphosphonate infusions). The ...

hrp0094p2-31 | Adrenals and HPA Axis | ESPE2021

Investigation of usage and acceptance of hydrocortisone granules in capsules for opening in children with adrenal insufficiency

Hilger Julia , Blankenstein Oliver , Neumann Uta ,

Context: Off-label and unlicensed use is widespread in medical therapy of children. Since 2007 there is an EU regulation, which includes the need for a pediatric investigation plan (PIP) in the drug approval process. In 2018, hydrocortisone granules in capsules for opening (Alkindi®) became the first medicine to be approved for the treatment of adrenal insufficiency in children from birth.Methods: An anonymised onli...

hrp0094p2-32 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia caused by homozygous pathogenic variant in the HSD3B2 gene.

Fylaktou Eirini , Christoforidis Athanasios , Moutsanas Vissarios , Sertedaki Amalia , Kanaka-Gantenbein Christina ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. 3βhydroxysteroid dehydrogenase type 2 deficiency (3βHSD2 deficiency) is a rare form of CAH (<0.5%) due to pathogenic variants in the HSD3B2gene encoding for the enzyme Type 2 3β-hydroxysteroid dehydrogenase Δ4–Δ5isomerase (3&#946...

hrp0094p2-33 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia with a CYP21A2 deletion overlapping Tenascin-X gene

Rodrigues Ivo Catarina , Fitas Ana Laura , Madureira Ines , Diamantino Catarina , Gomes Susana , Goncalves Joao , Lopes Lurdes ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol synthesis. 95% of CAH cases result from mutation in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin deficiency causes Enlers-Danlos syndrome (EDS). A variant called CAH-X, has recently been described, resulting from CYP21...

hrp0094p2-34 | Adrenals and HPA Axis | ESPE2021

Maternal primary adrenal cortex insufficiency during pregnancy: Spotlight on the Fetus and the Neonate. A systematic review and meta-analysis.

Ilia Georgia , Paltoglou George , Chatzakis Christos , Christopoulos Panagiotis , Mastorakos George ,

Background/Aim: Maternal primary adrenal insufficiency, has been infrequently described during pregnancy, due to its rarity. Based on the existing literature, maternal hormone deficiency influences pregnancy and has an impact on mother and fetus/neonate, with only a few studies emphasizing on the respective outcomes. The aim of this systematic review and meta-analysis was to evaluate the impact of maternal corticosteroid deficiency during pregnancy on the fetu...

hrp0094p2-35 | Adrenals and HPA Axis | ESPE2021

Assessment of blood pressure and carotid intima media thickness (CIMT) in children with primary adrenal insufficiency

Park Julie , Shantsila Helen , Hawcutt Daniel , Lip Gregory , Blair Joanne ,

Background: Increased risk of cardiovascular disease and increased subclinical atherosclerosis have been reported in children with primary adrenal insufficiency (AI), including those with congenital adrenal hyperplasia (CAH), when compared to healthy children. Carotid intima media thickness (CIMT) can be used as an early marker of cardiovascular risk. The severity of adverse metabolic profile has been related to the total hydrocortisone dose and duration of tr...

hrp0094p2-36 | Adrenals and HPA Axis | ESPE2021

Challenging in diagnosis and treatment of Cushing Disease in a 12 years old boy

Gjikopulli Agim , Kollcaku Laurant ,

Background: Cushing’s disease (CD) is caused by an ACTH-secreting pituitary corticotroph adenoma and it is the commonest cause of Cushing’s syndrome (CS) in pediatric age. CD is very rare disease almost in pediatric age and the most of pediatric endocrinologists have limited experience in the diagnosis and treatment of children with CD. Microadenomas are the most of ACTH-secreting pituitary tumors in the pediatric age and the majority of these fails ...

hrp0094p2-37 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia caused by compound heterozygosity of two novel CYP11B1gene variants.

Fylaktou Eirini , Smyrnaki Smyrnaki Penelope , Sertedaki Amalia , Kanaka-Gantenbein Christina ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause of CAH, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1gene encoding for the enzyme 11β-hydroxylase (11βOH).Case presentation: A thirteen-year-old g...

hrp0094p2-38 | Adrenals and HPA Axis | ESPE2021

Addison’s disease: Delay in diagnosis in a girl with longstanding symptoms

Vlachopapadopoulou Elpis Athina , Bonataki Myrto , Dikaiakou Eirini , Fakiolas Stefanos , Kafetzi Maria , Michalacos Stefanos ,

Background: Autoimmune destruction of the adrenal cortex is the cause of primary adrenal insufficiency in 45% to 55% of cases in children.Case presentation: A 10-year and 10-month-old female was admitted to the Pediatric Endocrinology Clinic for evaluation of suspected adrenal insufficiency. The girl reported longstanding complaints of fatigue, loss of appetite, recurrent gastric symptoms and salt craving. Medical history was significant...

hrp0094p2-39 | Adrenals and HPA Axis | ESPE2021

Clinical spectrum of congenital adrenal hyperplasia due to 3 beta hydroxysteroid dehydrogenase deficiency; A case series

Shaheen Tahir , Aftab Sommayya , Nadeem Muhammad , Saeed Anjum , Arshad Huma ,

Background: In adrenal gland 3β-HSD2 catalyses the conversion of Δ5 to Δ4 steroids (i.e., pregnenolone to progesterone,17 α-hydroxypregnenolone to 17-OHP and DHEA to androstenedione). Defect in this enzyme can affect glucocorticoid, mineralocorticoids and sex steroid synthesis but the clinical and biochemical profile can be very complicating and confusing due to conversion of intermediate steroids to more ac...

hrp0094p2-40 | Adrenals and HPA Axis | ESPE2021

Retrospective Evaluation of Cases Diagnosed with Classical Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency

Unsal Nafiye , Elmaoğulları Selin , Savaş Erdeve Şenay , Cetinkaya Semra ,

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. Diagnosis, monitoring of treatment, adjustment of drug doses are important for height, puberty and psychologic status of patients and their families.Materials & Methods: Patients with classical CAH due to 21-hydroxylase deficiency who were followed regularly in pediatric endocrinology clinic between 1994 and 2019 were included in this study. Inform...

hrp0094p2-41 | Adrenals and HPA Axis | ESPE2021

Corticotropin-independent Cushing’s Syndrome in toddlerhood: a challenging diagnosis and treatment

Simoes Joana , Crisostomo Mafalda , Costa Durval , Galhardo Julia , Lopes Lurdes ,

Background: Endogenous Cushing’s Syndrome (CS) is a rare disease in children, and corticotropin-independent forms are even scarcer. In childhood it carries a significant burden, resulting from both prolonged hypercortisolism long-term effects and treatment-associated morbidity.Case Report: A 23-month-old girl presented with irritability, central obesity with rapid weight gain and arrested linear growth, cushingoid facies with facial...

hrp0094p2-42 | Adrenals and HPA Axis | ESPE2021

A case of adrenal insufficiency during the course of multisystem inflammatory syndrome in children (MIS-C)

Kilci Fatih , Kozler Selen Hurmuzlu , Jones Jeremy , Doğan Kenan , Aydın Duygu , Mine Cizmecioğlu Filiz ,

Introduction: Multisystem inflammatory syndrome in children (MIS-C) is associated with Covid-19. MIS-C was first reported in April 2020 with similar symptoms to Kawasaki disease and has several treatment options, one of which is glucocorticoids.Autopsy studies in Covid-19 patients have shown degenerative adrenal changes.It has been reported that rarely Covid-19 may affect adrenal function and cause both primary and secondary adrenal insufficiency.Here we prese...

hrp0094p2-43 | Adrenals and HPA Axis | ESPE2021

Aetiology and different clinical conditions of primary adrenal insuffiency in a region of North Africa

Bouferoua Fadila , Bouterfas Nabila , Boucenna Hamza , Dahmane Nabila , Mohandoussaid Aida , Boukhedouma Nabila , Sekfali Lynda , Benhalla Nafissa ,

Introduction: Adrenal insufficiency is relatively rare in childhood and adolescence. Signs and symptoms may be non specific; therefore, the diagnosis may not be suspected early in the course. It may be categorized as primary or secondary and congenital or acquired. Many etiologies have been reported worldwide of which CAH was the commonest etiology in children.Objective and hypotheses: To determine the clinical features and evolution of ...

hrp0094p2-44 | Adrenals and HPA Axis | ESPE2021

Clinical and evolutionary aspects of Allgrove Syndrome, Algerian experience

Fadila Bouferoua , Nabila Bouterfas , Hamza Boucenna , Sofiane Benmaouche , Aida Mohandoussaid , Nabila Dahmane , Nafissa Benhalla ,

Introduction: Allgrove syndrome is a rare autosomal recessive disorder involving alacrymia, achalasia, Addison’s disease (3A) and neurological disorders (4A), it results from mutations in the AAAS gene located on chromosome 12q13 which codes for a protein known as ALADIN (ALacryma Achalasia aDrenal Insufficiency Neurologic disorder). Alacrymia is diagnosed by Schirmer’s test, achalasia by esophageal manometry while adrenal insufficiency is confirmed ...

hrp0094p2-45 | Adrenals and HPA Axis | ESPE2021

A Rare Coexistence of two autosomal recessive conditions: Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (CYP21A2 mutation) with Beta Thalassemia Major

Aslam Aniqa , Aftab Sommayya , Shaheen Tahir , Anjum Muhammad Nadeem , Saeed Anjum , Cheema Huma Arshad ,

Background & Aim: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive condition characterized by inadequate production of cortisol and aldosterone and accumulation of androgens. Beta thalassemia is an autosomal recessive condition caused by defective beta-globin resulting in accumulation of unbound alpha globin chains leading to ineffective erythropoiesis. We are reporting an unusual case of CAH due to 21-hydroxy...

hrp0094p2-46 | Adrenals and HPA Axis | ESPE2021

X-linked Adrenoleukodystrophy in south of Tunisia

Kmiha Sana , Bouzidi Nihed , Rania Khalfallah , Maaloul Ines , Chabchoub Imen , Aloulou Hajer , Kammoun Hassen , Kammoun Thouraya ,

Introduction: Adrenoleukodystrophy (ALD) is a rare X- linked disease caused by a mutation of the peroxisomal ABCD1gene. It is a progressive condition with a variable clinical spectrum that includes primary adrenal insufficiency, axonal demyelination and the accumulation of high levels of very long chain fatty acids (VLCFA) in the plasma and tissues.Methods: It’s a retrospective study of all cases of X-linked ALD who...

hrp0094p2-47 | Adrenals and HPA Axis | ESPE2021

Clinical, biological and genetic aspects of congenital adrenal hyperplasia in children at the Central Army Hospital in Algiers

Iabbassen Malek , Bensalah Meryem , Tardy-Guidollet Veronique , Menassa Rita , Morel Yves , Ouldkablia Samia Khadidja ,

Context: Congenital adrenal hyperplasia (CAH) is a rare genetic defect. Its prevalence is estimated at one case per 3,000 births in Algeria and one case per 15,000 births worldwide. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21. Molecular defects of CYP21A2 systematically decrease the activity of this enzyme and result in expression of varying severity and phen...

hrp0094p2-48 | Adrenals and HPA Axis | ESPE2021

Coexistence of Adrenal Insufficiency and Hypergonadotropic Hypogonadism: P450scc Deficiency

Şakar Merve , Savaş Erdeve Şenay , Guran Tulay , Aycan Zehra , Cetinkaya Semra ,

Introduction: Steroid hormone biosynthesis is initiated by the cholesterol side-chain cleavage enzyme (P450scc), which converts cholesterol to pregnenolone, the precursor of all steroid hormones. This enzyme is encoded by the CYP11A1 gene and is responsible for glucocorticoid, mineralocorticoid and sex steroid synthesis in the adrenal glands, gonads and placenta. Early or late onset adrenal insufficiency, 46, XY sex development disorder, and hypergonadotropic ...

hrp0094p2-49 | Adrenals and HPA Axis | ESPE2021

Assessment of Patients With Congenital Adrenal Hyperplasia in Armenia

Markosyan Renata , Navasardyan Lusine , Bayburdyan Gayane , Aghajanova Yelena ,

The congenital adrenal hyperplasias (CAH) comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis.Aim: To investigate the clinical features of the patients with CAH.Methods: The current study was conducted on 106 Armenian patients with CAH.Results: Distribution between regions: 45.3% were from Yerevan, 13.2%-Syunik region, 11.3...

hrp0094p2-50 | Adrenals and HPA Axis | ESPE2021

First case in Lebanon of homozygous mutation in CYP 11B2 leading to isolated aldosterone deficiency.

Azar Ahlam , El-Rahi Hiba , Makhoul Kevin , Makhoul Peter , Megarbane Andre ,

Isolated hypoaldosteronism is a rare cause of salt wasting in infancy and may be life-threatening, especially in the newborn. Isolated aldosterone deficiency results from loss of activity of aldosterone synthase encoded by CYP 11B2 gene. We reported the case of a newborn, who presented at the age of 4 weeks with severe dehydration, vomiting and hypotonia. Blood investigations showed severe hyponatremia, hyperkaliemia and metabolic acidosis. The familial history revealed a firs...

hrp0094p2-51 | Adrenals and HPA Axis | ESPE2021

A Rare Cause of Hyponatremia in a Child with Hirschsprung Disease Operated with an Ileostomy

Alassaf Abeer ,

Background and Objectives: Pseudohypoaldosteronism (PHA) is a rare condition characterized by hyponatremia, hyperkalemia, metabolic acidosis and high plasma aldosterone level. Pseudohypoaldosteronism secondary to gastrointestinal losses is rare in the pediatric population. We present a case with secondary pseudohypoaldosteronism due to excessive gastrointestinal losses through ileostomy.Methods: A 1.5 year-old-male child...

hrp0094p2-52 | Adrenals and HPA Axis | ESPE2021

Adrenal insufficiency masquerading as biliary atresia in an infant

Hashim Raihana , Senanayaka Ayodya , Kiriwaththuduwa K S U , Vass Angela ,

Background: Adrenal insufficiency is a rare cause of neonatal cholestasis, which is reversible with prompt glucocorticoid administration.Case presentation: A 2-month old baby boy was referred to the paediatric endocrine department for evaluation of intermittent hypoglycaemia associated with metabolic acidosis, hyponatraemia and hyperkalaemia. The infant was second born to second-degree consanguineous parents whose first...

hrp0094p2-53 | Adrenals and HPA Axis | ESPE2021

Mutation of NROB1 and Double mutants in cis of CYP21A2 gene in a Chinese boy with primary adrenal insufficiency

MA Huamei , ZHENG Rujiang , Chen Zhixin , Guo Song , Zhang Jun , Chen Qiuli , LI Yanhong ,

Background: X-linked Adrenal Hypoplasia Congenita (AHC) is a very rare hereditary cause of pediatric primary adrenal insufficiency (PAI). Congenital adrenal hyperplasia (CAH) due to 21-hydrolase deficiency(21OHD) is most common hereditary cause of pediatric PAI with autodominal recessive inheritance.Objective: To present a Chinese boy with PAI with the pathogenic mutation of NROB1 and Double mutants in cis of CYP21A2 gen...

hrp0094p2-54 | Adrenals and HPA Axis | ESPE2021

Clinical and hormonal features of the manifestation of various forms of congenital adrenal hyperplasia in children in real clinical practice

Rudkova Ekaterina , Solntsava Anzhalika , Grisuk Ivan ,

Introduction: Congenital adrenal hyperplasia (CAH) is a disease characterized by a defect in one of steroidogenic enzymes or the gene encoding the transport proteins. Frequency of occurrence is 1: 14000 newborns.Objective: To determine the age, clinical manifestations, the incidence and the effectiveness of treatment various forms CAH in children.Materials: Medical History of 35 patients aged from ...

hrp0094p2-55 | Adrenals and HPA Axis | ESPE2021

Twin infants with salt-wasting: double the trouble

Graneiro Ana , Aguilar Abisad Daniela , Dantas Marina , Gonzalez Aragon Camila , Tarkoff Joshua ,

Introduction: Failure to thrive (FTT) is a common entity encountered by pediatricians. It can be caused by inadequate energy intake or “organic causes” such as inborn errors of metabolism or disorders of the endocrine system. One cause that is rarely seen is a deficiency of aldosterone.Case presentation: A set of 3-month-old monozygotic male twins presented with failure to thrive and dehydration. Initially, they were evaluated ...

hrp0094p2-56 | Adrenals and HPA Axis | ESPE2021

Effect of treatment of double precocious puberty in a 9-year-old girl- case report

Sawicka Beata , Borysewicz-Sańczyk Hanna , Michalak Justyna , Bossowski Artur ,

Non-classic form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common disorder, which is associated with the use of hydrocortisone. Clinically patients present the GnRH-independent precocious puberty with rapid growth and advanced bone age. Inappropriate inhibition of androgen secretion can induce precocious central puberty. We present the case of 9-year-old girl, who was treated of the congenital adrenal hyperplasia due to 21- hydroxylase defi...

hrp0094p2-57 | Adrenals and HPA Axis | ESPE2021

Classical Congenital adrenal hyperplasia: about 7 cases

Draoui Najat , Zeryouh Nabila , Assarrar Imane , Rouf Siham , Latrech Hanane ,

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders of various enzymes participating in the adrenal steroidogenesi. 21-hydroxylase deficiency (21-OHD) is the most common type of CAH (90–95%). Less frequent types of CAH are 11β-hydroxylase deficiency (up to 8% of cases), 17α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, P450 oxidoreductase deficiency and StAR defici...