ESPE Abstracts

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...

Background: Final height (FH) in patients (pts) with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is often under the genetic target, despite improvement of new therapeutic strategies.Objective and hypotheses: The aim of this study is to evaluate FH in a cohort of pts with CAH due to 21OHD diagnosed before and after newborn screening (NBS) era in Emilia-Romagna, Italy.Method: We evaluated final heigh...

Delayed puberty (DP) is defined as a retardation of sexual maturation beyond the expected age, which conventionally is between 8 and 13 years in females. Since DP due to hypogonadism requires a specific treatment, it is crucial to promptly define the underlying pathogenesis and identify a tailored program of care. Hormonal therapy is essential to promote the development of secondary sexual characteristics, bone, muscle, and social, sexual, and psychologic skills. Despite the o...

Bone fragility is a more typical condition of old age, linked to physiological aging. In pediatric age, on the contrary, it represents a rare problem, but more often has an underlying primary cause. This condition manifests itself in most cases with recurrent or abnormal fractures and bone deformities, with a limitation of mobility, bone pain and consequent reduction in the quality of life of the child. The great difficulty for the clinician consists in reaching a correct diag...

Introduction: The association between ATD and AIG is very poorly characterized in pediatric age. We review the prevalence of the anti-gastric parietal cells antibodies (APCA) in young patients with ATD and we evaluated the development of AIG during follow-up, in order to define the usefulness of these markers for AIG screening in these patients.Patients and Methods: We evaluated 220 children and adolescents (11.28 ±...

Background and Aim: The relationship between T1DM and autoimmune thyreopathies is known and described, but the relationship between thyreopathies and other type of diabetes is not sufficiently clarified in pediatric age. The aim of our study was to assess the prevalence of autoimmune thyroid diseases (ATD) in children and adolescents with maturity onset diabetes of the young (MODY) in comparison with patients with T1DM and control group....

Background:Mutations of insulin receptor gene (INSR) lead to a wide spectrum of inherited insulin resistance syndromes. Type A insulin resistance is one of the these syndromes which is inherited autosomal dominant and leads to mild clinical symptoms after puberty.Objective and Hypothesis: To report a novel mutation of INSR gene mutation in a case of Type A insulin resistance who presented with transient neonatal diabetes...

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

Introduction: Short stature is frequently associated to neurofibromatosis (NF). In these patients this condition is often caused by growth hormone (GH) deficiency. We describe four boys affected by NF type 1 and GH deficiency treated with GH replacement therapy.Case report: GH deficiency was diagnosed in four patients with NF type 1, who were referred to our Pediatric Endocrinology Unit for short stature. Patient 1 started GH replacement therapy at the C...

KBG syndrome (OMIM 148050) is a an emerging autosomal dominant disorder caused by heterozygous mutations in the ANKRD11 gene or deletions of 16q24.3, characterized by developmental delay, short stature, dysmorphic facial features and skeletal anomalies. Patients and methods: We report 22 patients with dysmorphic features, learning disabilities, behavior problems and macrodontia, where a clinical diagnosis of KBG was suspected. An ANKRD11 defect was confirmed in 12 patients. In...