Genetic sequencing of a patient with Kallmann syndrome plus 5[alpha]-reductase type 2 deficiency

More than 20 genes have been identified causing KS either alone or in combination. 5a-reductase type 2 deficiency (5a-RD) caused by SRD5A2 gene mutation is a rare disease characterized by elevated ratio of testosterone (T) to dihydroteststorone (DHT). The MRI of normal seminal vesicles is given in [Figure 1]h.{Figure 1} Normal respond of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) was seen after the subcutaneous injection of triptorelin 100 mg. [...]identification of mild enzyme defect should be based on genetic diagnosis and T/DHT ratio. Interestingly, the heterozygous state was found in 5% of their normal Chinese controls. [...]a remote hypothesis of a dominant effect of some mutations, in particular, cellular environments cannot be completely excluded. The elevated T/DHT ratio post-HCG stimulation is more sensitive and reliable in diagnosis of 5a-RD[3] and helpful to distinguish between androgen insensitive syndrome and other conditions arising from T synthesis defects. Some authors reported that DHT regulated the expression of genes relevant for normosmia idiopathic hypogonadotropic hypogonadism (nIHH) such as GnRH1, KISS1, and KISS1R and significantly stimulate the migration of FNC-B4 placode in vivo. [...]we first reported a male with KS and 5a-RD diagnosed with gene sequencing that will boost the knowledge about geneotype-phenotype connection. Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5 alpha-reductase deficiency.