Acromegaly and type 1 neurofibromatosis. Is association of both conditions due to chance?
نویسندگان
چکیده
Type 1 neurofibromatosis (NF1), also known as von Recklinghausen disease, is the most common of the so-called neurocutaneous syndromes. It is a genetic disorder of autosomal dominant inheritance with complete penetrance and highly variable clinical expression. Its incidence rate is 1/3000--4000. Approximately half the cases are inherited, and the rest are de novo mutations. The most characteristic clinical features are café-au-lait spots and cutaneous neurofibromas. The diagnostic criteria established require at least two of the following: café-aulait spot, neurofibromas, axillary or inguinal ephelides, optic glioma, iris hamartomas, and typical bone lesions. Patients with NF1 more frequently develop benign and malignant tumors during their life. Optic gliomas are the predominant type of intracranial tumors, but other tumors may appear inside and outside the central nervous system. The case of a patient with NF1 who developed a GHsecreting pituitary adenoma is reported. This was a 42-year-old woman with a history of menarche at 12 years and no menstrual changes or fertility problems. She was diagnosed in 2005 with a small multinodular goiter with normal thyroid function, with a predominant 14-mm nodule. Manifestations of NF1 included café-aulait spots, disseminated neurofibromas, mainly in the chest and abdomen, and scoliosis. A genetic study showed a mutation in the NF-1 gene consisting of a guanine for adenine substitution in intron 4b (IVS4b + 5G→A) causing a truncated NF-1 smaller than normal. She has one daughter and one son. The daughter carries the mutation and has café-au-lait spots and an optic nerve glioma as manifestations of the disease. There are no other relatives affected. Because of the presence of galactorrhea on expression, which persisted since breast-feeding of her son nine years before, two prolactin measurements were performed, which
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ورودعنوان ژورنال:
- Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion
دوره 60 3 شماره
صفحات -
تاریخ انتشار 2013