A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis.
10.11817/j.issn.1672-7347.2018.07.018
- Author:
Xiaodan LONG
1
;
Jing XIONG
1
;
Zhaohui MO
1
;
Qin ZHANG
1
;
Ping JIN
1
Author Information
1. Department of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
- Publication Type:Case Reports
- MeSH:
Cafe-au-Lait Spots;
diagnosis;
genetics;
Child;
Genes, Neurofibromatosis 1;
Growth Hormone;
deficiency;
Humans;
Male;
Mutation;
Neurofibromatosis 1;
blood;
diagnosis
- From:
Journal of Central South University(Medical Sciences)
2018;43(7):811-815
- CountryChina
- Language:Chinese
-
Abstract:
Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growth-retardation. He was eventually diagnosed as NF1 with growth hormone deficiency. A novel heterozygous splicing mutation c.6579+2 T>C (IVS 34+2 T>C) of NF1 gene was identified in the patient and his mother. Considering NF1 may present with short stature due to growth hormone deficiency, all children with short stature combined with café au lait spots should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.
