hrp0097p1-496 | GH and IGFs | ESPE2023

Comparative Efficacy of Growth Hormone treatment on children with Idiopathic Growth Hormone Deficiency (and Idiopathic Short Stature (A 12year Tertiary Center Experience

Ahmed Fatima , Hammouri Marwa , Allami Zahraa , Al Jneibi Sara , Al Jubeh Jamal , Weber Stefan , Al Remeithi Sareea

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...

hrp0097p2-4 | Adrenals and HPA Axis | ESPE2023

Newborn screening for 21 OH Congenital adrenal hyperplasia in Italy: a 14 years population study.

Baronio Federico , Abrigo Enrica , Azzolini Sara , Cavarzere Paolo , Matarazzo Patrizia , L.C. Meroni Silvia , Russo Gianni , Balsamo Antonio , Cassio Alessandra

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...

hrp0097p2-44 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

New variant in DHX37 associated to 46,XY gonadal dysgenesis

Dominguez-Riscart Jesus , Garcia-Zarzuela Ana , Arellano-Ruiz Paola , Benito-Sanz Sara , Delgado-Cotan Lourdes , Maria Lechuga-Sancho Alfonso

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...

hrp0097p2-114 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Tailored daily transdermal testosterone treatment before hypospadias surgical repairing: preliminary data of a single center study

Lucaccioni Laura , Insalaco Anna , Vandelli Sara , Ghidini Filippo , Trevisani Viola , F. Madeo Simona , Luca Ceccarelli Pier , Iughetti Lorenzo

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...

hrp0098fc4.3 | Adrenals and HPA Axis 1 | ESPE2024

Plasma reference values for C19 oxy-steroids, 11-keto testosterone and 11-keto androstenedione in a paediatric cohort

Kulle Alexandra , Reese Sara , Caliebe Amke , Reinehr Thomas , Simic-Schleicher Gunter , Schulz Esther , Heger Sabine , Holterhus Paul-Martin

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...

hrp0098p1-206 | Thyroid 2 | ESPE2024

Usefulness of T4 measurement in neonatal screening for congenital hypothyroidism - Experience of two Italian Centers

Di Mase Raffaella , Ibba Anastasia , Amitrano Marianna , Lorello Paola , Vasaturo Sara , Incandela Valeria , Capalbo Donatella , Salerno Mariacarolina

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...

hrp0098p2-45 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Hereditary hypophosphatemic rickets with hypercalciuria: a rare disorder not to be forgotten about

Pontone Matteo , Barbato Alesssandro , Cerutti Matteo , Chiti Nicolò , Corbelli Laura , Rossi Alessio , Soldovieri Sara , Trinati Eugenio , Municchi Giovanna , Stagi Stefano

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...

hrp0098p2-117 | Fat, Metabolism and Obesity | ESPE2024

A paediatric case of Progeroid Lipodystrophy: diagnosis, follow-up and new insights from a de novo mutation in the POLD1 gene.

Cerutti Matteo , Pontone Matteo , Soldovieri Sara , Rossi Alessio , Chiti Nicolò , Corbelli Laura , Trinati Eugenio , Barbato Alessandro , Ricci Franco , Stagi Stefano

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 (PolĪ“) 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...

hrp0098p2-283 | Thyroid | ESPE2024

Evaluation of thyroid function in a pediatric cohort with chronic spontaneous urticaria: a retrospective, monocenter, observational study

Foti Randazzese Simone , Manti Sara , Salzano Giuseppina , Crescenti Roberta , Scilipoti Mariagrazia , Caminiti Lucia , Crisafulli Giuseppe , Gabriela Wasniewska Malgorzata , Valenzise Mariella

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...

hrp0098p3-13 | Adrenals and HPA Axis | ESPE2024

Focus on the project: ITASAG24, observational, multicenter study comparing Italian regions with and without neonatal screening for Congenital Adrenal Hyperplasia

Corbelli Laura , Trinati Eugenio , Barbato Alessandro , Pontone Matteo , Rossi Alessio , Soldovieri Sara , Cerutti Matteo , Luigi Marseglia Gian , Stagi Stefano

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...