ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 15 Issue : 4 Year : 2023
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
A Novel Heterozygous <i>NF1</i> Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2023; 15(4): 438-443 | DOI: 10.4274/jcrpe.galenos.2022.2021-12-24

A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report

Si Qin1, Yindi Zhang1, Fadong Yu1, Yinxing Ni1, Jian Zhong1
1The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
2Contributed equally to the study

Neurofibromatosis-Noonan syndrome (NFNS), a rare autosomal-dominant hereditary disease, is characterized by clinical manifestations of both neurofibromatosis type 1 (NF1) and NS. We present a case of NFNS with short stature caused by a heterozygous nonsense variant of the NF1 gene. A 12-year-old boy was admitted because of short stature, numerous café-au-lait spots, low-set and posteriorly rotated ears, sparse eyebrows, broad forehead, and inverted triangular face. Cranial and spinal magnetic resonance imaging showed abnormal nodular lesions. Molecular analysis revealed a novel heterozygous c.6189 C > G (p.(Tyr2063*)) variant in the NF1 gene. The patient was not prescribed recombinant growth hormone (GH) therapy because exogenous GH may have enlarged the abnormal skeletal lesions. During follow-up, Lisch nodules were found in the ophthalmologic examination. NFNS, a variant form of NF1, is caused by heterozygous mutations in the NF1 gene. The mechanism of GH deficiency caused by NF1 is still unclear. Whether NFNS patients should be treated with exogenous GH remains controversial.

Keywords: Neurofibromatosis-Noonan syndrome, growth hormone deficiency, NF1 gene

Si Qin, Yindi Zhang, Fadong Yu, Yinxing Ni, Jian Zhong. A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report. J Clin Res Pediatr Endocrinol. 2023; 15(4): 438-443

Corresponding Author: Yinxing Ni, China
Manuscript Language: English
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