Kallmann syndrome (KS) is a rare heterogeneous disease with hypogonadotropic hypogonadism and anosmia or hyposmia. The aim of this study is to highlight the clinical features and diagnosis of this rare event by reporting a 13-year-old Chinese boy with a novel mutation of CHD7. He presented because of short stature (−2.0 SD) for 11 years. He was born at term with a birth weight of 2.95 kg. Cryptorchidism operation was undertaken at 5 years old. He suffered from absent pubertal development with 2 ml of testicles bilaterally, 1.5 cm of phallus, stage I pubic hair and lower basic sex hormone. He had a history of hyposmia that was ignored. Brain MRI showed hypoplastic left and aplastic right olfactory bulb. A novel heterozygous mutation c.2442+1G>A at the intron of CHD7 was found, which may significantly affects mRNA splicing. Hence, in patients with short stature or deficiency of secondary sexual development, olfactory bulb image and function should be evaluated carefully. Genotyping may be helpful for confirming the clinic diagnosis, estimating prognosis and genetic counseling.
Keywords: Kallmann syndrome, Short stature, Mutation, CHD7
27 - 29 Sep 2018
European Society for Paediatric Endocrinology