ESPE Abstracts

Short stature is one of the most common concerns presented to pediatric endocrinologists. ISS describes a heterogeneous group of children with a height of more than 2 SD score (SDS) below the corresponding mean height for a given age, sex, and population group without underlying aetiology. The primary objectives of GH treatment are acceleration of growth velocity to promote normalization of stature during childhood and attainment of normal FAH.Ob...

Introduction: Early identification of classic 21OH-Congenital Adrenal Hyperplasia (21OH-CAH) through newborn screening (NBS) is crucial to prevent adrenal crises, especially in males. Today 21 OH-CAH NBS is performed in 5/21 regions of Italy. This study aims to report the results of 21OH-CAH NBS in Italy from 2006 to 2019.Methods: All patients underwent a dried blood spot (DBS) test for 17OH-progesterone (17OHP) within t...

Introduction: 46,XY gonadal dysgenesis (GD) represents a heterogeneous group of disorders/differences of sex development (DSD) characterized by abnormal gonadal development leading to a wide phenotypic spectrum. Variable degrees of external genitalia undervirilization are observed, ranging from micropenis to female-like genitalia and partially or fully-developed Mullerian derivatives.Case Report: A 6 years-old boy follow...

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...