S‐adenosylhomocysteine hydrolase deficiency is an autosomal recessive neurometabolic disorder affecting the muscles, liver, and nervous system. The disease occurs by pathogenic variants of AHCY gene encoding S‐adenosylhomocysteine hydrolase (AHCY) enzyme. This article reports a patient with presumed AHCY deficiency who was diagnosed by whole exome sequencing due to compound heterozygosity of novel p.T57I (c.170C>T) and p.V217M (c.649G>A) variants of AHCY gene. The patient had diffuse edema, coagulopathy, central nervous system abnormalities, and hypotonia. She died in 3 months due to cardiovascular collapse. Clinical findings of the present case were compatible with previously reported AHCY deficiency patients and the novel variants we found are considered to be the cause of the symptoms. This article also compiles the previous reports and expands clinical spectrum of AHCY deficiency by adding new features.

Azoospermia is the absence of spermatozoa in the ejaculate and azoospermic semen samples are found at a rate of approximately 2% in the adult male population and 10%-20% in male individuals with infertility problems. Genetic factors are responsible for 21%-29% of azoospermia (Krausz, Forti, & McElreavey, 2003).However, in approximately 50% of the cases, the aetiology is still unknown and this condition is called 'idiopathic infertility'.One of the first genetic tests to be performed in patients with idiopathic male infertility is karyotype analysis. It is also well known that Yq microdeletions are associated with male infertility. The presence of deletions in Yq in infertile men indicates the presence of azoospermia factor (AZF), a locus responsible for spermatogenesis. The AZF locus is divided into 3 regions: AZFa, AZFb and AZFc. Deletions occurring in these three regions can cause infertility by affecting different stages of spermatogenesis (Krausz et al., 2003). There are studies showing that sperm retrieval is not possible with testicular sperm extraction (TESE)