Literature DB >> 15247871

[Graves' disease and hyperprolactinemia in a patient with Noonan syndrome neurofibromatosis type 1].

P Bolko1, R Wasko, J Waligórska, J Narozna, J Sowióski.   

Abstract

We report the case of a 42-Year-old woman with Recklinghausen disease (neurofibromatosis type 1) and Noonan syndrome who developed Graves' disease. Hyperthyroidism, which had existed for two Years without treatment, led to the discovery of neurofibromatosis type 1. The diagnosis of Graves' disease was confirmed by blood hormone levels, thyroid gland ultrasound, radioisotope scan and thyroid iodine uptake. Additional tests were carried out due to the patient's short stature and the presence of subcutaneous nodules. Hyperprolactinemia, bone defects (bone density testing), and abnormal MRI signals from the optic chiasma were disclosed. The diagnosis of Recklinghausen disease was proven histologically. The possible co-existence of neurofibromatosis type 1 and Noonan syndrome are discussed on the basis of this clinical case.

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Year:  2004        PMID: 15247871     DOI: 10.1016/s0003-4266(04)95659-4

Source DB:  PubMed          Journal:  Ann Endocrinol (Paris)        ISSN: 0003-4266            Impact factor:   2.478


  3 in total

1.  'If there were water we should stop and drink': neurofibromatosis presenting with diabetes insipidus.

Authors:  Rachel Barry; Antoinette O' Connor; Mohn Hazriq Awang; Orna O' Toole
Journal:  BMJ Case Rep       Date:  2018-02-11

2.  Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Authors:  Serhat Güler; Gözde Yeşil; Hasan Önal
Journal:  Balkan Med J       Date:  2017-05-29       Impact factor: 2.021

3.  Thyroid Gland 18F-FDG Uptake in Neurofibromatosis Type 1.

Authors:  Zoë Y G J van Lierop; Sander Jentjens; Monique H M E Anten; Roel Wierts; Connie T Stumpel; Bas Havekes; Marinus J P G van Kroonenburgh
Journal:  Eur Thyroid J       Date:  2018-06-05
  3 in total

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