ESPE Abstracts

Introduction: Understanding the growth outcomes and management strategies in Salt-Wasting Congenital Adrenal Hyperplasia (SW-CAH) is crucial for optimizing patient care.Objective: We review and synthesize the evidence on growth patterns and final adult height outcomes in pediatric patients with SW-CAH, focusing on the effects of different management strategies including glucocorticoid treatment, growth hormone (GH) thera...

Background: Adrenal tumour in childhood is relatively rare, and its clinical features are variable depending on hormonal profiles. Pigmented primary nodular adrenocortical disease (PPNAD) and adrenal carcinoma may present with clinical signs of precocious puberty due to increased adrenal androgen secretion in addition to glucocorticoids. [Case] 12-year-old boy. Obesity and short stature were noted on school health check-up a year ago. The endocrinological work...

Introduction: As Indonesia begins implementing newborn screening (NBS) for congenital adrenal hyperplasia (CAH), pediatricians must be prepared to promptly and correctly diagnose and manage CAH. The aimof this study was to explore the knowledge, perspectives and experience of Indonesian pediatricians and pediatric residents regarding CAH.Methods: A cross-sectional electronic survey via Google Form was disseminated during...

Introduction: General practitioners (GP) are often the first point of contact for patients presenting with symptoms of congenital adrenal hyperplasia (CAH). With a limited number of pediatricians and pediatric endocrinologists as well as the upcoming universal implementation of CAH newborn screening (NBS) in Indonesia, the role of GPs in the diagnosis and emergency management of CAH cannot be overstated. This is the first study to explore the knowledge, attitu...

Background: Exposure to intrauterine adrenocortical tumors (IATs) is an exceedingly rare of virilization in females. We present the case of a virilized female infant, born after diagnosis of a maternal adrenocortical tumor, diagnosed in pregnancy. To the best of our knowledge, this is the first such case to be reported.Case Presentation: The mother conceived a dichorionic diamniotic twin pregnancy following clomiphene in...

Background: Adrenal insufficiency (AI) is mainly due to congenital disorders in children. Acquired causes can be autoimmune, inflammatory, infectious but mainly drug induced especially due to prolonged exposure to excess glucocorticoids. Daily dose, duration, timing, as well as the route of administration can all play a role in. We present two patients with different clinical presentations.Case 1: A 8 year- old-girl refe...

Introduction: Cantu Syndrome is a very rare disease characterised by hypertrichosis, macrocephaly, wide nasal bridge, long philtrum, rough face, widening of the costae, flattening of the vertebrae, widening of the metaphysis, cardiomegaly, pericardial effusion, ventricular hypertrophy, hypotonia, delayed speech and mental retardation as a result of autosomal dominant mutation in ABCC9 gene. There is very limited data on endocrine findings of Cantu Syndrome in ...

Introduction: Catecholamine-secreting tumors typically present with episodic palpitations, sweating, flushing, and hypertension. However, patients may infrequently complain of excessive water consumption. The symptoms of sweating, increased water intake, flushing, palpitations, and weight loss can be attributed to catecholamines produced by the tumor tissue.Case Report: A seven-month-old male patient presented with episo...

Aldosterone synthase deficiency (ASD) is a rare cause of hyponatremia, commonly found in infancy and if diagnosed early it has a good prognosis. ASD has been classified into 2 types, type 1, which is the rarest form, and type 2. Patients with ASD usually present with salt-wasting, insufficient release of potassium in the urine and failure to thrive in early infancy. This paper reports on one ASD case of a 6-week-old female who presented with a salt-wasting crisis, hyperkalemia...

Objective: To investigate the feasibility and rationality of letrozole (Lz) as treatment for severely advanced bone age (BA) in children with 21-Hydroxylase Deficiency (21-OHD).Methods: This was a retrospective self-control study to test the possibility of Lz that a decrease in the rate of bone maturation and an increase in predicted adult height (PAH).Results: The improvement of h...

Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. It is defined as insufficient production or lack of action of glucocorticoids. Congenital adrenal hyperplasia (CAH) is the most common childhood cause, although numerous monogenic causes unrelated to CAH have been identified. Description of the etiology, age at diagnosis, clinical and biochemical characteristics, treatment and genetics of patients diagnosed with PAI between 0-18 years of age reviewed...

Background and Objective: Autoimmune Addison’s disease is generally regarded as an irreversible progressive disease leading to the lifelong replacement of glucocorticoids and mineralocorticoids. We are reporting a rare case of a patient diagnosed with clinically overt Addison’s disease who showed recovery of adrenal functions over time.Case presentation: A 10.5-year-old girl was diagnosed with celiac disease ...

Background: Congenital Adrenal Hyperplasia (CAH) is a rare autosomal recessive genetic disorder caused by the absence or severely impaired activity of enzymes involved in adrenal steroid biosynthesis, with over 90% of cases resulting from 21-hydroxylase deficiency. The initial presentation of CAH can range from a dramatic adrenal crisis with salt loss to more subtle signs such as female genital ambiguity or male scrotal hyperpigmentation. Timely identification...

Background: Patients with non-classical congenital adrenal hyperplasia (NCCAH) generally show a normal growth pattern and reach to their target height. However, short final height can occasionally occur. Here, we present a patient with NCCAH who reach his target height with additional therapy.Case Report: A 10.5-year-old boy was brought in due to pubic hair growth that had started before 6 months. He was born at 30 weeks...

Patient 10 years old, female, since 8 years old of excessive weight gain, facial changes, hirsutism, violaceous striae on trunk, abdomen and legs, acanthosis nigricans, dorsal cervical fat pad, muscle weakness and sleep disturbances. Menarche at 9 years old. Weight 110.4 kg, height 141.6 cm (+0.08 SD), BMI 55.1 (+4.67 SD). Initial study HBA1C 5.17%, glycemia 86 mg/dl DHEAS110 ug/dl, Total testosterone 39.19 ng/dl, SHBG10nmol/l, FAI 3.09, Androstenedione 2.5 ng/ml, 17 hydroxipr...

Background: We describe the case of a male newborn, presenting in our outpatient endocrinological clinic after suffering from a bilateral adrenal haemorrhage in the context of a moderate perinatal asphyxia.Case Presentation: The term male newborn was born spontaneously from breech position after a prolonged labour in a secondary care centre in Freiburg, Germany. Perinatal BGA showed severe metabolic acidosis (pH 6.99, BE...

Background: Virilizing congenital adrenal hyperplasia (CAH) is a complex disorder which requires a multidisciplinary approach. Exact timing of genitoplasty in children with virilization varies on the available resources, patients’ perspectives, and cultural influences. This study is aim ed to assess surgical interventions based on the degree of virilization in girls with congenital adrenal hyperplasia from a single center.M...

Case presentation: We present the case of a 6-year-old female patient with history of congenital salt-wasting adrenal hyperplasia (CAH) under treatment with hydrocortisone and fludrocortisone, who during the study of her urogenital sinus shows bilateral medullary nephrocalcinosis (NC) in the urethrocystography. The patient was born with a disorder of sex development, with apparently male genitalia, with a phallus and labioscrotal folds. Her karyotype is 46XX, ...

Introduction: The absence of menarche in a girl aged > 15 yrs requires extensive endocrinological and gynecological diagnostics. Amenorrhea occurs with a frequency of 3–4% among women of reproductive age. The most common causes of primary amenorrhea are: primary ovarian failure (48.5%), agenesis of the Müllerian ducts (16.2%), gonadotropin deficiency (8.3%) and constitutional delay in growth and puberty (6%).Materia...

A 12-month-old boy was admitted to the emergency department in Spain for a tonic-clonic seizure. The initial evaluation revealed metabolic acidosis (pH 7,33, bicarbonate 18,5 mEq/L), glycemia 50 mg/dL, sodium 135 mEq/L and potassium 7,3 mEq/L. After treatment for hypoglycemia, he was admitted for investigation. Physical examination was unremarkable. There was no family history of hereditary disorders nor consanguinity. Pregnancy was uneventful and the Portuguese neonatal scree...

Background: 11β-hydroxylase deficiency (11βOHD) is a rare form of congenital adrenal hyperplasia (CAH), caused by biallelic mutations in the CYP11B1 gene. Clinical manifestations include cortisol deficiency, ambiguous genitalia in females, and hypertension. The clinical manifestations sometimes similar to those of 21-hydroxylase deficiency, and can cause confusion especially in limited settings. We presented three patients initially diagnose...

Introduction & Aim: Adrenoleukodystrophy (ALD) stems from ABCD1 gene mutations, affecting very long-chain fatty acid (VLCFA) metabolism, leading to VLCFA accumulation in tissues. The variable clinical spectrum of ALD underscores the need for early detection to optimize management with pre-emptive treatments. Hematopoietic stem cell transplantation (HSCT) offers curative potential, while symptom management aims to slow progression. We present cases...