ESPE Abstracts

Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation wa...

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: Testicular adrenal rest tumours (TART) may develop in males with congenital adrenal hyperplasia (CAH), with a widely variable prevalence. Having no malignant features, there seems to be no need to remove them. However, these lesions may increase in size and number when exogenous hormone therapy is inadequate. Untreated, may lead to infertility and irreversible damage of the surrounding testicular tissue.Case report: We present two cases, diag...

Introduction: Craniopharyngiomas (CP) are benign, dysontogenic supra or intra-sellar tumours. They are locally aggressive with severe endocrine, neurological and ophthalmological implications. Somatotroph deficiencies rise therapeutic management problems due to increased risk of tumour growth and recurrence.Case report: Male patient, aged 18 years 4 months, born naturally, late-term (42 weeks, 3200 g, Apgar 7), third child in a brotherhood of four (appar...

Introduction: Beta thalassemia is a common genetic disorder in Mediterranean countries. Congenital hypothyroidism is also a condition resulting with deficiency of thyroid hormone in newborn infants. Autoimmune thyroid dysfunction in childhood patients with thalassemia major is uncommon and poorly described. We report a case of a child with two independent diseases - clinical hypothyroidism diagnosed in early childhood, and beta thalassemia major who developed ...

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...

The LMNA gene encodes lamin A/C, intermediate filament proteins associated with the inner nuclear membrane. Mutations in LMNA gene cause a wide range of human diseases sometimes called ‘laminopathies’ that affect different organ systems depending upon the mutation. Most laminopathies involve tissue of mesenchymal origins, resulting in such features as cardiac disorders and/or muscular dystrophy, lipodystrophy or progeroid syndromes. The group of progeroid syndromes i...

Vanishing testis syndrome leads to hypergonadotropic hypogonadism. We report the case of a 28-years-old patient, who was diagnosed with bilateral cryptorchidism and phymosis at birth. At one, three and seven years-of-age orchidopexy was unsuccessfull to find testicular tissue. Meanwhile one cure of human chorionic gonadotropin (hCG) therapy was applied, without success. Endocrine investigation was continued just in 2011, at 24 years-of-age, when infantile external male genital...