ESPE Abstracts

Introduction: Fanconi anemia (FA) is a very rare, complex and chronic genetic disorder. The diagnosis is most often made at pediatric age. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure. FA on its own as well as its treatment can affect the endocrine system. We report the case of a child followed for 12 years after HSCT for FA.Observation: A patient has been followed since the age of...

Introduction: Graves’ disease is a common etiology of hyperthyroidism. The association of Graves’ disease and idiopathic combined pituitary hormone deficiency (ICPHD) is rare. We report the case of a patient followed for ICPHD who developed Graves’ disease during follow-up.Observation: A 13-year-old patient consults for stature delay. She had a family history of idiopathic hypogonadotropic hypogonadism in a 25-year-old bro...

Introduction: Type 1 neurofibromatosis (NF1), also called Recklinghausen’s disease, is one of the most common genetic diseases. It is autosomal dominant inherited. Its diagnosis is based on the presence of a familial history of NF1 in a first-degree relative and on the presence of a set of clinical arguments. Endocrine manifestations may exist. The most common are pheochromocytoma and precocious puberty, but other endocrine disorders can be observed more ...