High frequency of well-defined Y-chromosome deletions

Abstract
Idiopathic Sertoli cell-only syndrome (SCOS) is characterized by azoospermia, small testes, absence of germ cells in the testes, elevated follicle stimulating hormone and normal testosterone concentrations. The Y-chromosome is involved in the regulation of spermatogenesis and in the pathogenesis of a fraction of idiopathic male infertility. An azoospermia factor (AZF) is present on the Y-chromosome long arm euchromatic region (Yq11) and two gene families (DAZ and RBM) have been identified within this region. The aim of this study was to investigate whether a specific pattern of Yq11 microdeletions may be associated with idiopathic SCOS. Eighteen idiopathic subjects showing a testicular cytological picture of bilateral SCOS were selected and tested by polymerase chain reaction for a set of 29 Y-specific sequence-tagged sites (STS).

How does a middle-class salaried person like us save money? We have our bank accounts, what is left out of the expenditure every month gets accumulated in the account and become our savings, right? How practical is that? If we do not plan our expenditure and income, we are sure to drain the bank account even. That may be why many of us opt for savings schemes and installment accumulations. The piggy bags have not become so huge to hold our money aspirations and therefore we have made third-party financers or firms like Fintech LTD as our piggy banks.

When we scale down this method to the poorer sections of the society for whom having a savings bank account or a trustworthy third party firm is beyond touchable, microfinance schemes come to their rescue. Two such practical methods are ‘saving up’ and ‘saving through’.

Saving up has become a household forum

The daily wage laborers and villagers who hide or collect coins and changes every day with the hope of making it a big sum often find themselves and their family members resort to the same ‘immature’ savings whenever they have an emergency or even for ration. What if this collection is done by a trusted third person outside the household, takes charge of its security and hands over the bigger sum to the respective households? This makes up the saving up scheme.

A collector is entrusted with the duty of door-to-door collection of money, however small it is, even if 50 cents every day. This has helped the women of these poor families by giving them a way to make a finance for themselves or their dependents. They can make this fund even bigger enough to fund their children’s education or marriage. The collector may take a fee from them, but the rate will be negligibly small compared to the rates of big firms and lenders.

 Saving through is another relief

 When you have a group of known family households or friends, you can save in a big way through a mutual association of trust and cooperation. The group may have any number of members who know each other. Each member contributes a certain sum to the group fund and periodically, like every month or every year, the aggregate sum is paid to any one member who is in need. During the next cycle, a second member receives the sum and so on. There is no commission or fee here and the amount received is usually higher than that collected through saving up method.

Microfinance schemes in rural household work on the essence that the individuals in a group trust each other and are willing to cooperate for the benefit of their fellow members.

We found Yq microdeletions in 10 out of 18 patients (55.5%) while the fathers or brothers of six out of 10 patients deleted for Yq were shown to carry an intact Y-chromosome. These deletions may therefore be considered as de-novo deletions and the cause of SCOS. The analysis of the microdeletions allowed us to identify two homogeneous regions that have a high incidence of deletion. The smallest deletion, common to all patients, is located in Yq interval 5. We therefore speculate that there is a relationship between specific, well-characterized Yq11 microdeletions and a testicular picture of SCOS, identifying an Y-related region frequently deleted in this syndrome. In conclusion, the findings of this study demonstrate that a large percentage of idiopathic SCOS may be genetically determined and identify an Y-related region that seems to possess one or more still unknown genes essential for spermatogenesis.

PMID: 9557827
[Indexed for MEDLINE]