ESPE Abstracts

Background: However, no study has considered the effect of a supernumerary X chromosome on bone mineral status and bone metabolism.Objective and hypotheses: To evaluate bone mineral status and metabolism in a cohort of patients with nonmosaic triple X syndrome.Method: Nineteen girls (median age 10.9, range 7.7–15.9 years) with nonmosaic triple X syndrome were cross-sectionally studied and compared to an age- and body-size-matc...

Introduction: Differentiation of the external genitalia depends on serum androgen concentrations in the foetal life. The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most frequent cause of female genital ambiguity. It is an autosomal recessive disorder due to CYP21A2 mutations that are classified in groups based on their in vitro residual enzymatic activity. The phenotype usually is predicted by the less severe mutatio...

Background: The Adrenocortical Neoplasm (ACN) is a rare condition in childhood (0,3 cases/1000000). In paediatric age, ACN at stage 1 is treated by complete adrenalectomy, while at stages 2 and 3 surgery is followed by adjuvant treatment with Mitotane (M). Chemotherapy is required in metastatic cases (stage 4).Objective and hypotheses: M is an adrenal cytotoxic agent which has both adrenolytic action on ACN cells and inhibition on steroid hormone synthes...

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome characterized by postnatal growth retardation, intellectual disability, microcephaly, peculiar facial features, broad thumbs and big toes and other organs malformations. There are two forms: RSTS type 1 characterized by CREBBP gene mutations (16p13.3); RSTS type 2 dues to mutations/ deletions in EP300 gene (22q13.2). The type 2 is associated with mild phenotype with possible absence of the typical diagnost...

Background: Klinefelter syndrome is the most common sex chromosome disorder (prevalence: 1/600 newborn males), characterized by at least one extra X chromosome. If the diagnosis is not made prenatally, the disorder can remain unknown until pubertal or adult age. Kabuki syndrome, instead, is a rare, dysmorphic syndrome (1:32 000 newborn) characterized by distinctive facial features, multiple anomalies, and mental retardation. About 50–80% of cases are due to de novo</e...

Background: Pituicytoma is a very low-grade glioma that originate in the neurohypophisis and infundibulum.Objective and hypotheses: Describe diagnosis and treatment of associated pituicytoma and ACTH-secreting adenoma in a 6-year-old girl.Method: Case report and literature review.Results: We report the case of a 6-year-old presented with growth failure and associated weight gain, premature pubarche, and hyper...

Background: Impaired linear growth and low IGF1 levels, strictly related to poor glycemic control have been reported in children with type 1 diabetes (T1DM).Objective and hypotheses: We studied growth and growth factors in 91 T1DM young patients, 54 males (age: 11.73±3 years, disease duration: 5.2±2.9 years). All subjects were on intensive insulin therapy: 72 children by multiple injection therapy (MI), 19 children by continuous subcutaneous in...

Background: An association between type 1 diabetes mellitus (T1DM) and idiopathic generalized epilepsy is reported. Some authors suggest an autoimmune mechanism mediated by antibodies to glutamic-acid-decarboxylase (GAD), that is an enzyme involved in the synthesis of the neurotransmitter GABA. Dravet syndrome (DS) is a rare, severe epilepsy disorder characterized by febrile hemiclonic seizures or generalized status epilepticus starting at 6 months of age. In classical DS, a d...

Background: The increasing number of transgender adolescents presenting in early puberty requires to investigate the effects of long-term puberty suppression and gender-affirming hormones (GAH) on body composition and metabolism. Clinical studies have ethical and practical limitations. A preclinical mouse model may be helpful to gain mechanistic insights.Methods: Prepubertal (4week-old) female mice were treated with the ...

Background: Transgender individuals increasingly present at gender services in childhood. Consequently, to suppress pubertal development, more adolescents are long-term exposed to gonadotropin-releasing hormone analogues (GnRHa), from onset of puberty until start of gender-affirming hormones (GAH), around 16 years. Prolonged GnRHa may compromise bone health more than shorter-term treatment. If earlier start of GAH, when psychologically indicated, may partially...