ESPE Abstracts

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 rarely, namely delayed puberty, which we will discuss in this observation.

Observations: These are 3 patients with NF1. They are 1st degree relatives (first cousins) followed in the internal medicine and endocrinology department of Mahdia.

Case 1: 20-year-old male patient with NF1, who consulted for delayed onset of secondary sexual characteristics. In the family history we noted a NF1 in his father and a simple puberty delay in his mother. On examination, the patient presents a deep voice, an A1 P3 G5 stage according to Tanner’s classification, the beard is absent. The examination of the external genitalia was normal. The penis has a normal size at 8 cm at rest. The scrotal skin is well wrinkled and normally pigmented. The hormonal dosage shows testosteroneemia at 3.67 ng/mL, FSH at 1.99 IU/l, LH at 3.25 mIU/l, prolactinemia at 13.78 ng/mL, and TSH level at 2.091 mIU/l. The hormonal dosage shows a central hypogonadism, which may be in favor of organic damage to the hypothalamic-pituitary axis or simple puberty delay. A pituitary MRI was requested to guide the diagnosis.

Case 2: 21-year-old male patient with NF1, followed since the age of 14. In the family history we noted a NF1 in his father and his paternal aunt. The patient has no clinical or biological evidence for a hormonal disorder. He entered puberty at the age of 14 and the course of puberty was normal.

Case 3: 21-year-old female patient with NF1, followed since the age of 15. In the family history we noted a NF1 in her father, her paternal aunt and uncle. Clinical examination and biology revealed no evidence for an endocrine disorder, and for puberty, her menarche was at the age of 14.

Conclusion: Patients with NF1 have special problems because of their disease. That’s why the identification of endocrine disorders can surely improve the life quality of these patients.