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