ESPE Abstracts

Background: Hypospadias is one of the most common congenital anomalies in males. Surgical repairing aims to improve the aesthetic and functional outcome. The success rate of hypospadias repairing is variable according to the severity of the malformation with a complication rate(CR) of almost 60% in proximal forms. Testosterone treatment before surgery is still controversial and its impact on surgical outcomes, and the best regimen for administration, is unclea...

Introduction: Rege et al. (2018) demonstrated that 11-keto-testosterone (11KT) is the dominant androgen in girls during adrenarche. Claahsen-van der Grinten et al. (2022) proposed C19 oxysteroids as a potential parameter for therapeutic control in congenital adrenal hyperplasia (CAH). Turcu et al. (2016) observed a significant elevation in C19 oxysteroids in patients with 21-hydroxylase deficiency (21OHD). Currently, C-19 oxysteroids...

The initial priority of newborn screening (NBS) for congenital hypothyroidism (CH) should be the detection of the primary forms (prevalence: 1:2000-3000), characterized by elevated TSH and reduced FT4 values. When financial resources are available, guidelines recommend adding measurement of T4 or FT4 to screen for central CH (CeCH), characterized by reduced T4/FT4 and reduced, normal or inadequately elevated TSH. Most NBS programs for CH are based on TSH measurement only, ther...

Background: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by rickets, muscle weakness, bone pain, nephrocalcinosis or nephrolithiasis. It is caused by mutation in SLC34A3 gene, encoding for renal sodium-phosphate cotransporter IIc (NaPi-IIc).Case: A patient aged 10 years came for evaluation for bone pain at lower limbs. He was born at full term from no...

Introduction: Mandibular hypoplasia, Deafness, Progeroid features, Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutation in POLD1 gene, which encodes the catalytic subunit of the DNA polymerase delta (Polδ) enzyme.Case: a 6.5-year-old boy presented to the outpatient clinic due to severe thinness (BMI -4.86 SDS, WHO 2006 growth charts). Examination of his medical history rev...

Introduction: Chronic urticaria (CU) affects about 0.3% of pediatric subjects worldwide. Most cases have not identifiable triggers and are classified as chronic spontaneous urticaria (CSU). Etiopathogenesis is complex and the role of thyroid diseases has been widely studied. Indeed, subjects with CSU are held to often have autoimmune disorders, including autoimmune thyroid diseases. This study aims to analyze the possible association of thyroid autoimmunity in...

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...

Introduction: Iron deficiency anemia is the most common form of anemia in pediatric age. It affects 20.1% of children aged 0-4 years old and 5.9% of children aged 5-14 years old in the Western World with profound implications for the growth. Dietary changes and iron supplementation may be crucial. This study aims to assess the correlation between growth and iron deficiency in children and the effects of ferrous iron treatment on the auxological parameters....

Background: Pseudohypoparathyroidism (PHP) refers to a group of rare diseases characterized by post-receptor resistance to parathyroid hormone and other protein hormones (TSH, GHRH, LH, FSH), due to defects in the Gsα protein. PHP can be associated with the phenotype known as Albright’s hereditary osteodystrophy (AHO), which includes round face, short stature, brachydactyly, ectopic ossifications and mental retardation. Diagnosis often stem out fro...

Background: Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is a rare cause of sellar mass in paediatric patients. Longstanding and untreated primary hypothyroidism leads to hyperplasia of thyrotrophs and lactotrophs as well as transdifferentiation of somatotrophs to thyrotrophs. Hashimoto's thyroiditis is the most common cause of hypothyroidism in PHPH. Clinical findings of PHPH include growth retardation, obesity and symptoms of hypothy...