[Clinical and genetic features of 45,X maleness: A case report and review of the literature].

Objective: To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X.

Methods: Using GTG-banded chromosome analysis, we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR.

Results: GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add(14)(p11).

A newly discovered mutation in PICK1 in a human with globozoospermia.

Globozoospermia is a human infertility syndrome caused by spermatogenesis defects (OMIM 102530). Acrosome plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Thus, malformation of the acrosome is the most prominent feature seen in globozoospermia.

[Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia].

Objective: To investigate the relationship of the mutation of the spermatogenesis-associated gene KLHL-10 with azoospermia, oligospermia and asthenospermia.

Methods: Genomic DNA was extracted from the peripheral blood samples of 325 patients with idiopathic azoospermia (n = 11), oligozoospermia (n = 196) or asthenospermia (n = 118) and 100 fertile male controls. KLHL-10 mutations were detected for all the DNA specimens by PCR, DHPLC and sequencing techniques.