Endocrinological late effects of oncologic treatment on survivors of medulloblastoma.

Introduction: Radiation therapy, chemotherapy, and surgery used to treat brain tumors have effects on the hy pothalamic-pituitary-adrenal axis and can result in endocrine dysfunction in up to 96% of cases.

Patients And Method: Retrospective and descriptive study in patients diagnosed with medulloblasto ma who underwent treatment with chemo and radiotherapy in the last 20 years in a tertiary hospital. The variables analyzed were age, sex, weight, height, body mass index (BMI) at the end of follow-up, sexual maturity stage, serum levels of TSH and free T4, ACTH/cortisol and IGF-1, FSH, LH, estradiol, testosterone, lipid profile (total cholesterol), and growth hormone dynamic function test.

A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.

Introduction: Schaaf-Yang syndrome (SYS) is caused by truncating point mutations of the paternal allele of , an imprinted gene located in the critical region of Prader-Willi syndrome (PWS). These patients present a phenotype with neurodevelopmental delay, hypotonia, joint contractures, and a particularly high prevalence of autism (up to 75% in affected individuals). The loss of function of is suggested to contribute to endocrine hypothalamic dysfunction in individuals with PWS.