ESPE Abstracts

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...

Background: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder with variable phenotype, mainly characterized by bone fragility, short stature and non-skeleton findings. Since growth failure is a predominant feature of OI, recombinant human growth hormone (rhGH) has been suggested as a potential intervention. We describe two boys with OI type I treated with rhGH.Case Reports: Patient 1 had the first frac...

Introduction: The diagnosis of Congenital Adrenal Hyperplasia (CAH) is a challenge due to the complexity of its pathophysiology and the variety of clinical manifestations. Female newborns (NB) with classical forms present virilization of the external genitalia while in boys it is usually normal. Salt-losers boys and girls are highly susceptible to develop acute adrenal insufficiency and death in the first weeks of life; for these reasons, Neonatal Screening (NS) programs have ...

Objectives: We describe an unusual presentation of Histiocytosis in a 17 year old female with a large lung mass, and bilateral adrenal masses.Methods: Case reportResults: A 17-year-old female presented with chest pain, as well as several weeks history of fatigue, decreased appetite, a dry cough and unintentional weight loss. No history of fevers or night sweats. Her vital signs and...

Case Report: Patient 1: a 3.6-yr-old girl presented with very severe hypertriglyceridemia (serum triglyceride level >1000mg/dL) in random sampling in the first year of life. She presented with recurring episodes of abdominal pain, and splenomegaly. There is no history of consanguineous marriage. Maternal and paternal family had history of coronary events at an early age. A genetic panel showed homozygous variant chr8:19.953.365 C>T (p.Ala162Val) in the l...

Background: Children with structural hypothalamic-pituitary anomalies, e.g. ectopic posterior pituitary (EPP) with/without pituitary stalk interruption syndrome, septo-optic dysplasia (SOD), and isolated anterior pituitary aplasia/hypoplasia (AP/HP) usually have more severe GHD and better auxological outcomes with GH therapy than those with normal hypothalamic-pituitary magnetic resonance imaging findings. However, adult height data is limited.Objective:...

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of respiratory control resulting from heterozygous polyalanine repeat expansions within the Paired-Like Homeobox 2B (PHOX2B) gene. A hypoglycaemic seizure in a 4-year-old girl with CCHS, lead to a more detailed examination of glycaemic control in a cohort of children with CCHS.Objective: To describe glucose homeostasis in children with CCHS.M...

Background: Neonatal Cushing syndrome is a rare and severe condition, mostly associated with the McCune-Albright (MCA) syndrome. Management options include medical treatment (with ketoconazole or metyrapone resulting in 11-beta-hydroxylase blockade) and radical treatment with bilateral adrenalectomy. Spontaneous regression in late infancy has been reported.Objective and hypotheses: To report on the outcome of a 14 month-old girl with severe neonatal Cush...

Background: Boys with delayed puberty represent one of the main cause for pediatric endocrine referrals. Although the majority of them have constitutional delay of growth and puberty (CDGP), it is important to identify isolated hypogonadotropic hypogonadism (IHH) for optimal management.Objective and hypotheses: The aim of the study was to evaluate the usefulness of inhibin B and AMH as biological markers for distinguishing between CDGP and IHH.<p cla...

Background: Brain MRI is an essential tool in the diagnosis of neuroendocrine disorders and aims at detecting anatomical abnormalities and tumors. However, it may lead to the identification of unrelated or questionably related abnormalities in the hypothalamic-pituitary region and/or the rest of the brain parenchyma.Objective and hypotheses: To establish the prevalence of causal lesions on brain MRI of children evaluated for hypopituitarism, assess the f...