ESPE Abstracts

Background: Mixed gonadal dysgenesis (MGD) is a disorder of sex development associated with a numerical sex chromosome abnormality. Reported genital phenotypes range from female external genitalia or mild clitoromegaly through all stages of ambiguous genitalia to hypospadias or a normal penis, depending on the proportion of monosomic cells.Case presentation: 18 years old girl, with a history of hypertension, ventricular septal defect and obesity presente...

Introduction: Prader-Willi Syndrome (PWS) is a multisystemic genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2–q13, characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity and endocrine dysfunctions as hypogonadism and GH deficiency (GHD).Cases report: We present 3 cases: 2 females and 1 male with specific clinical features...

Background: Distal monosomy 10q is a rare chromosomal anomaly characterized by unusually slow growth before and after birth, mild to severe intellectual disability and distinctive craniofacial features (hypertelorism, strabismus, a prominent or broad nasal bridge, and posteriorly rotated low-set ears). Some other anomalies have been described in various systems. The behavioral profile was characterized by marked inattention, hyperactivity and impulsivity. In recent years, subt...

Background: Primary IGF1 deficiency (PIGFD) is a rare disease defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. Whereas some members of the GH–IGF axis have been shown to be implicated in the severe syndromic forms of PIGFD due to GH insensitivity, genetic causes of less severely affected patients are mostly unknown.Objective and hypotheses: The aim of the present study was to systematically investigate fr...

Background: Costello syndrome (CS) is a rare autosomal dominant genetic disease, first described in 1971, part of neuro-cardio-facio-cutaneous syndrome (with RAS pathway genes mutations of MAPKinaza-RASopathies), characterized by short stature, delayed mental development, joint hiperlaxity, papillomas, congenital heart defects and increased risk to develop benign or malignant solid tumors.Case: We present the case of a teenaged girl (15 years 7 months), ...

Background: Type 1 diabetes mellitus (T1DM) is caused by autoimmunity against the pancreatic beta-cell. Although a significant number of T1DM patients develop further autoimmune disorders during lifetime, coexisting severe immunodysregulation is rare.Objective and hypotheses: Presuming autosomal-recessive inheritance in a complex immunodysregulation disorder including T1DM in two siblings born to consanguineous parents, we performed whole exome sequencin...

Background: Primary IGF1 deficiency (PIGFD) is a rare condition defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. PIGFD is an approved indication for treatment with recombinant IGF1 (rIGF1). Its genetic causes remain largely unknown.Objective and hypotheses: To elucidate genetic causes of PIGFD.Method: Clinical phenotyping followed by trio-based whole-exome sequencing (WES) in 11 complete...

Context: Physiological growth hormone is secreted during the slow-wave sleep. Traditionally, growth hormone (GH) therapy is given in daily GH injections before sleep. This schedule better imitates the physiological diurnal variation of GH secretion and action. Late-night daily injections have been claimed to be associated with sleep disturbances and insomnia, yet there is no hard evidence supporting this contention. Morning and evening GH injections produce co...

Background: Monogenic diabetes mellitus (DM) is an early-onset, non- autoimmune diabetes. Genetic diagnosis can personalize patient management and lead to prevention. We describe four generations of DM in one family, caused by a heterozygous mutation in the RFX6 gene. RFX6 (Regulatory factor X, 6) is essential for the development of the endocrine pancreas. Mutations in RFX6 can cause neonatal (Mitchell-Riley syndrome) as well as childhood DM,...

Background: A rapid weight gain during infancy increases adult lean body mass, whereas weight gain during adiposity rebound at age 4-7 years results in increased adult fat mass and an increased risk of the metabolic syndrome and T2D. To understand the impact of age of obesity onset on growth, we classified non-syndromic childhood overweight into an early onset (EO, age 0-3) and a late onset (LO, age 3-7) group and characterized the growth patterns of the two.<...