• PMID: 10566180
• Gene Name: DAZ1
• Condition: Infertility
• Association: The results showed that microdeletions were distributed in different regions of the Y chromosome long arm, including known regions involved in spermatogenesis (DAZ and RBM genes, AZFa, b and c regions) and other still poorly defined loci
• Mutation: Y chromosome microdeletions
• Population size: 290
• Population details: 50 fertile controls, 40 unilateral ex-cryptorchid with azoospermia or severe oligozoospermia sustained by severe bilateral testiculopathy, 20 unilateral ex-cryptorchid men with moderate oligozoospermia , 110 patients affected by severe idiopathic primary
• Sex: Male
• Infertility type: Male infertility
• Associated genes: RBM genes, AZFa, b and c regions
• Other associated phenotypes: Sertoli cell-only syndrome, severe hypospermatogenesis, azoospermia, oligozoospermia

[Microdeletions of the Y chromosome in cryptorchidism and in idiopathic male infertility]

Foresta C, Ferlin A, Moro E, Garolla A, Rossato M, Scandellari C.

We investigated the possible role of Y chromosome microdeletions in regions previously shown to be important for male germ cell development in unilateral ex-cryptorchid subjects manifesting important bilateral testiculopathy, in order to clarify whether cryptorchidism could be the expression of an intrinsic congenital testicular abnormality. Microdeletion analysis of the Y chromosome long arm was performed by polymerase chain reaction and confirmed by Southern blot in 40 selected unilateral ex-cryptorchid patients with azoospermia or severe oligozoospermia sustained by severe bilateral testiculopathy (Sertoli cell-only syndrome and severe hypospermatogenesis, respectively), 20 unilateral ex-cryptorchid men with moderate oligozoospermia and normal function of the descended testis, 110 patients affected by severe idiopathic primary testiculopathies, 20 patients affected by moderate idiopathic testiculopathy and, as controls, 50 patients affected by known causes of testiculopathy and 50 fertile controls. Eleven out of the 40 (27.5%) unilateral ex-cryptorchid patients affected by bilateral testiculopathy and 28 out of 110 (25.4%) patients affected by severe idiopathic primary testiculopathy showed microdeletions in the Y chromosome long arm, while all other subjects were normal. Male relatives of patients with deletions were also normal. Microdeletions were distributed in different regions of the Y chromosome long arm, including known regions involved in spermatogenesis (DAZ and RBM genes, AZFa, b and c regions) and other still poorly defined loci. No difference in localization of deletions was evident between ex-cryptorchid and idiopathic patients. Microdeletions in the Y chromosome may be responsible for bilateral severe testicular damage: the clinical consequence, other than idiopathic azoospermia and severe oligozoospermia, may also be unilateral cryptorchidism, probably due to altered testicular responses to mechanisms regulating testicular descent. FAU - Foresta, C AU - Foresta C AD - Dipartimento di Scienze Mediche e Chirurgiche, Clinia Medica 3, Università degli Studi di Padova. FAU - Ferlin, A AU - Ferlin A FAU - Moro, E AU - Moro E FAU - Garolla, A AU - Garolla A FAU - Rossato, M AU - Rossato M