ESPE Abstracts

Objective: To summarize the prevalence of compromised linear growth in 21OHD and its final adult height (FAH).Methods: Clinical data of children with CAH 21OHD from pediatric endocrinology clinics at the First Affiliated Hospital of Sun Yat-Sen University from January 1990 to February 2023 were included. The prevalence and types of compromised linear growth in 21OHD and related factors were discussed. FAH and its related...

Introduction: Adrenal insufficiency (AI) represents a severe deficiency in the synthesis and release of cortisol and/or aldosterone. The prevalence of primary/secondary AI is estimated to be 20–50 per 100,000 individuals across Europe. However, data on its prevalence in Central Asia (CA) remains unknown. Kazakhstan is a geographically large CA country with a population of 20 million people. This contributes to the sparse distribution of specialized outpa...

Introduction: Coronavirus disease 2019 (COVID-19) poses a serious risk to individuals with adrenal insufficiency (AI), making them more susceptible to infections and COVID-19 infection-induced adrenal crises, impacting their life expectancy and quality of life (QoL).Methods: We conducted a retrospective case-control study at Severance Children's Hospital in South Korea from June 2019 to December 2022. We enrolled 94...

Introduction: 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency causes a rare form of Congenital Adrenal Hyperplasia (CAH) characterised by varying degrees of mineralocorticoid and glucocorticoid deficiencies with undermasculinisation in genetic males. The biochemical hallmarks are elevated androgen precursors in the delta5 pathway (dehydroepiandrosterone (DHEA) and 17-pregnenolone), with low mineralocorticoids and low (stimulated) cortisol levels. Immun...

Background: iMAD is a very rare cause of ACTH-independent Cushing´s syndrome in young children. Bilateral adrenalectomy is a definitive treatment, but poses young children at a high risk due to life-long adrenal insufficiency. Therefore, pharmacological treatment with metyrapone seems an alternative bridging option for a limited period of time.Case report: A 3 6/12 year old boy presented with a history of rapid wei...

Background: Bilateral inferior petrosal sinus sampling (IPSS) is the gold standard for determining the source of hypercortisolism in ACTH-dependent Cushing's syndrome. Traditionally, IPSS is performed with CRH stimulation. Since CRH has been unavailable recently, intravenous desmopressin administration may be preferred during IPSS.Case Report: A 13-year-old boy presented with a weight gain of 10 kg and a decreased h...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with congenital errors of steroid biosynthesis in the adrenal glands. The prevalence of CAH is estimated to be 1:10.000-20.000 for classic and 1:200-1.000 for non-classic types in Europe. In the Caucasus & Central Asia (C&CA), the prevalence is unknown. A delayed diagnosis is associated with an increased risk of neonatal morbidity/mortality, whereas early d...

Background: Allgrove syndrome (AS) is a rare autosomal recessive disease characterized by alacrimia, achalasia, adrenal insufficiency and variable autonomic, central or peripheral nervous system dysfunction due to (AAAS) gene mutation on 12q13 coding ALADIN protein. Simultaneous onset of all clinical features is not a rule. Alacrimia is the earliest and constant symptom presenting since birth. However, achalasia is the most common complaint bringing children t...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase(21-OH) deficiency is the most common type of CAH. In the treatment, the insufficinet hormones are replaced. The excess doses cause hypercortisolism, insufficient doses; causes hyperandrogenism. Both metabolic conditions; It has been found to be associated with comorbidities that increase the risk of cardiovascular disease. Here, it is aimed to determine the comorbidities that increase the risk of cardiovascular disease...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene localized on Xq28, affecting the adrenal cortex, nervous system, and testicular functions. It is characterized by the deficiency in transporting very long-chain fatty acids (VLCFA). We present a case of a boy diagnosed with adrenoleukodystrophy and discuss the importance of family screening, as his sibling was diagnosed th...

Introduction: Supra-physiological doses of steroids are frequently used in the management of non-endocrine conditions, including chronic respiratory disease and epilepsy. Long-term use risks iatrogenic adrenal insufficiency (AI), necessitating professional and family education on management of intercurrent illness and adrenal crisis.Aims: To design and implement a Trust-wide pathway for steroid prescribers on the managem...

Introduction: Prader Willi Syndrome (PWS) is a genetic disorder caused by the lack of expression of paternally inherited genes in chromosome 15q11-q13 region. Central adrenal insufficiency (CAI) has been described but its prevalence is unknown.Aim: to assess central adrenal function in a group of prepuberal PWS patients suspected of CAI.Methods: PWS patients with confirmed molecula...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a cause of primary adrenocortical insufficiency. It is associated with accumulation of very long chain fatty acids (VLCFA), due to peroxisome dysfunction. X-ALD is caused by pathogenic variants of the ABCD1, which encodes an ATP-binding cassette transport protein, and is inherited in X-linked recessive mode. There is no known genotype-phenotype correlation, and the degree of VLCFA elevation does n...

Introduction: Congenital adrenal hyperplasia (CAH) describes a rare group of inherited conditions caused by enzyme defects within the steroid biosynthesis pathway. 21-hydroxylase deficiency accounts for approximately 95% of cases. The prevalence of even rarer forms of CAH varies according to geographical location and ethnicity.Aims: To report the clinical characteristics of rare forms of CAH under the care of a tertiary ...

Introduction: Early-onset androgen excess commonly presents in pre-pubertal girls as premature adrenarche (PA). Girls with PA have clinical signs of androgen excess, such as pubic/axillary hair, body odour, greasy hair, and moderately elevated adrenal androgens before their 8th birthday. There is conflicting evidence if girls with PA are at higher risk to have or develop metabolic dysfunction, or progress to developing Polycystic Ovary Syndrome (PCO...

Background: We present the case of a 7-year old girl presenting with undulant ACTH independent Cushing syndrome (CS).Case presentation: The patient presented at a secondary care centre with hyperphagia, fatigue and 8 kg weight increase 4 weeks after an upper airway infection. The parents described a similar episode with spontaneous regression 12 months before. At physical examination she showed a cushingoid habitus with ...

Background: Childhood adrenal insufficiency (AI) is generally treated with immediate release hydrocortisone (IRH), which has a short half-life, requiring multiple daily doses. Modified-release hard hydrocortisone capsules (Efmody®) (MRH) is licenced for use in children >12yrs with congenital adrenal hyperplasia (CAH).Aims: (1) Describe the characteristics of children switched to MRH; (2) Report blood spot 17-hydro...

Introduction and Objective: Puberty marks the transition from childhood to adulthood, initiated by the activation of the hypothalamic-pituitary-gonadal axis. Anti-Müllerian hormone (AMH) and inhibin B, both secreted by granulosa cells, play crucial roles in pubertal development and reflecting ovarian reserve. Establishing reference intervals for AMH and inhibin B across different pubertal stages is essential for assessing ovarian function and identifying ...

Background: Early onset of androgen excess in pre-pubertal children is usually caused by called premature adrenarche (PA). PA is characterised by the development of pubic and axillary hair, adult-type body odour in girls <8yrs and in boys <9yrs. PA may be a forerunner condition of polycystic ovary syndrome (PCOS), a complex metabolic disorder also characterised by androgen excess. Women with PCOS have higher risk of developing type 2 diabetes, dyslipidae...

Background: Adrenocortical tumors are rare tumors in children with very limited data to reveal outcome in resource- limited settings.Materials and Methods: A retrospective cohort study was carried out to evaluate medical records of 24 children with adrenocortical tumors, who were registered at our tertiary care hospital from Jan 2012 to date.Results: Total 24 children were included...

Testicular adrenal rest tumors (TARTs) may develop in some patients with congenital adrenal hyperplasia (CAH), probably from overstimulation of adrenocorticotrophic hormone (ACTH) to remnants of intra-testicular adrenal tissue. TARTs can lead to structural testicular damage and infertility. Although rare, they may occur when CAH patients are non-compliant with glucocorticoid therapy. Due to their deep-sited location, usually only TARTs of more than 2 cm are palpable, hence, th...

Introduction: Adrenocortical carcinoma (ACC) is a rare malignancy in children, presenting diagnostic and therapeutic challenges. This case report details the presentation, workup, and initial management of a highly aggressive ACC in a young infant.Case Presentation: A 12-month-old boy presented with premature pubarche. Parents also noticed rapid weight gain, increased body hair growth, and penile enlargement. Clinical pi...

Introduction and Aim: Adrenal lesions (AL) in childhood present with a variety of clinical features, and their evaluation can be challenging. Diagnosis and follow-up should be evaluated on a case-by-case basis. Adrenal hemorrhage (AH) can be seen in infants due to sepsis and prematurity. Adrenal incidentalomas (AI) are detected in imaging performed without suspicion of adrenal disease. We aimed to present the characteristics of the cases evaluated for AL.<...

Introduction: Systematic newborn screening (NBS) based on 17 ɑ OHP, followed by molecular analysis for the most frequent adrenal enzyme steroid abnormalities in newborns at high risk for congenital adrenal hyperplasia (CAH), allowed to reveal the nature of genotype-phenotype correlations in most of the patients (pts) presented as “classical CAH” – salt wasters (SW) or simple virilizers (SV). According to the enzyme rest activity they co...

Introduction: NR0B1 gene encodes the DAX 1 protein, an untypical member of the orphan nuclear receptor superfamily. It plays a key role in the development and function of the adrenal glands and hypothalamic-pituitary-gonadal axis. Deleterious or intragenic mutations cause X –linked congenital adrenal hypoplasia manifested as primary adrenal insufficiency (PAI) in infancy or early childhood often combined with hypogonadotropic hypogonadism.<p class="a...