Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 26, 2019; 7(20): 3310-3315
Published online Oct 26, 2019. doi: 10.12998/wjcc.v7.i20.3310
Recognizable type of pituitary, heart, kidney and skeletal dysplasia mostly caused by SEMA3A mutation: A case report
Fang Hu, Liao Sun
Fang Hu, Liao Sun, Department of Endocrinology and Metabolism, Fifth Affiliated Hospital Sun Yat-Sen University, Sun Yat-Sen University, Zhuhai 519000, Guangdong Province, China
Author contributions: All authors collected and analyzed the patient’s clinical data; Hu F wrote the manuscript and Sun L revised the manuscript.
Informed consent statement: The patient provided written informed consent to the publication of this case report.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Liao Sun, PhD, Chief Doctor, Department of Endocrinology and Metabolism, Fifth Affiliated Hospital Sun Yat-Sen University, Sun Yat-Sen University, Meihuadong Road 52, Zhuhai 519000, Guangdong Province, China. sunliao@mail.sysu.edu.cn
Telephone: +86-756-2528741 Fax: +86-756-2528741
Received: June 25, 2019
Peer-review started: June 27, 2019
First decision: July 31, 2019
Revised: August 29, 2019
Accepted: September 11, 2019
Article in press: September 11, 2019
Published online: October 26, 2019
Processing time: 123 Days and 14.4 Hours
Abstract
BACKGROUND

The SEMA3A gene, which is located at 7q21.11, is involved in hypothalamic neuron migration, heart development, kidney development, and skeleton metabolism. Mutation of the SEMA3A gene is associated with Kallmann syndrome 16 with or without a normal sense of smell. In addition, two case reports showed that mutation of the SEMA3A gene could cause short stature, low gonadotropin, hypogonadism, thoracic deformity, a high scapula, rib and lower limb deformity, facial deformity (long face, epicanthic folds, backwards ears), and arterial malformation.

CASE SUMMARY

We reported the case of a 26-year-old Chinese man who was admitted because of short stature. Physical examination showed that he had many abnormal symptoms, including a short neck, facial moles, knee valgus, transverse palm, continuous grade 5/6 murmurs in the pulmonary auscultation area, no whiskers, or pubic hair, no Adam’s apple, short penis and cryptorchidism. Radiological examination showed pituitary, gonad, heart, kidney and skeletal dysplasia. The laboratory tests revealed low growth hormone, luteinizing hormone, follicle-stimulating hormone, testosterone and estrogen. Clinical whole-exome detection showed that our patient, unlike previously reported patients, has a new SEMA3A gene mutation (c.950A>G). Now, his height has increased by 3 cm. In addition, he has a good appetite and reduced subcutaneous fat over 3 mo of recombinant human growth hormone injections therapy. Unfortunately, he refuses further treatment about gonad.

CONCLUSION

Patients who come to a hospital because of their short stature must undergo gene detection if they have other simultaneous abnormal phenotypes.

Keywords: Pituitary dysplasia; Heart dysplasia; Kidney dysplasia; Short stature; Cryptorchidism; SEMA3A; Case report

Core tip: The SEMA3A gene is involved in hypothalamic neuron migration, heart development, kidney development, and skeleton metabolism. Mutation of the SEMA3A gene was associated with short stature, low gonadotropin, hypogonadism, thoracic deformity, a high scapula, rib and lower limb deformity, facial deformity (long face, epicanthic folds, backwards ears), and arterial malformation in cases reported before. Here, we report a patient who exhibited pituitary, heart, kidney and skeletal dysplasia caused by new mutation of the SEMA3A gene (c.950A>G).