ESPE Abstracts

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 ...