ESPE Abstracts

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50.000 births, with a 2:1 femaleto-male predominance. It results from the hemizygous deletion encompassing the 4p16.3 region. The typical craniofacial phenotype is described as a « Greek warrior helmet appearance ».Case Report: A 5-year-old boy is brought to the pediatric endocrinology consultation for shor...

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disease characterized by hypothalamic-pituitary dysfunction associated with major hypotonia during the neonatal period. In childhood, the main problems are the appearance of hyperphagia with the risk of morbid obesity, learning difficulties and behavioral disorders. It concerns one case in 25.000 births.Observation: A 15-year-old boy from a non-consanguineous ma...

Introduction: Silver-Russell Syndrome (SRS) is a rare genetic disease with an estimated prevalence of 1/100,000. It is characterized by the association of severe intrauterine growth retardation, postnatal failure to thrive, particular facial dysmorphism and asymmetry of the limbs. SRS is a pathology of parental imprinting. It is dependent on several imprinted genes, acting through different molecular mechanisms.Case Report:</stro...

Introduction: McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD), cafe-au-lait skin spots and precocious puberty (PP). SAM is a rare disease and its prevalence is estimated between 1/100,000 and 1/1,000,000. Somatic activating mutations of the GNAS gene located on chromosome 20q13 encoding the α subunit of the regulatory protein Gsα are responsible for the entity.Case report: This is a ...

Introduction: Pituitary deficiency, or hypopituitarism, is defined by insufficient synthesis of one or more anterior pituitary hormones (growth hormone, TSH, ACTH, LHFSH, prolactin) associated or not with diabetes insipidus (ADH deficiency). In children it is more frequently congenital, due to abnormal pituitary development; it is then a rare disease with an estimated prevalence of between 1/16.000 and 1/150.000.Case report:</str...

Introduction: McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD), cafe-au-lait skin spots and precocious puberty (PP). SAM is a rare disease and its prevalence is estimated between 1/100,000 and 1/1,000,000. Somatic activating mutations of the GNAS gene located on chromosome 20q13 encoding the α subunit of the regulatory protein Gsα are responsible for the entity.Case report: This is a ...

Introduction: McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD), cafe-au-lait skin spots and precocious puberty (PP). SAM is a rare disease and its prevalence is estimated between 1/100,000 and 1/1,000,000. Somatic activating mutations of the GNAS gene located on chromosome 20q13 encoding the α subunit of the regulatory protein Gsα are responsible for the entity.Case report: This is a ...

Introduction: Pituitary deficiency, or hypopituitarism, is defined by insufficient synthesis of one or more anterior pituitary hormones (growth hormone, TSH, ACTH, LHFSH, prolactin) associated or not with diabetes insipidus (ADH deficiency). In children it is more frequently congenital, due to abnormal pituitary development; it is then a rare disease with an estimated prevalence of between 1/16.000 and 1/150.000.Case report:</str...