We present a family with autosomal-dominant inheritance of renal insufficiency caused by renal hypoplasia in six individuals. In all affected individuals, signs of optic disk dysplasia were detected, but most patients were asymptomatic. A heterozygous missense mutation in the PAX2 gene causing a Gly75 to Ser substitution was present in all affected individuals. A second, unrelated patient presented with ocular complaints related to optic disk dysplasia, and had a history of vesico-ureteral reflux. A heterozygous hexanucleotide duplication in the PAX2 gene was detected leading to the duplication of GluThr at positions 74 and 75. The mutations in these two families are the first mutations in the PAX2 gene that do not lead to a truncated protein. Mechanistically, these mutations are expected to result in abnormal folding of the PAX2 protein. These observations further expand the spectrum of clinical features associated with PAX2 mutations, and suggest that a distinct genetic disorder can be identified in patients with renal dysplasia through a careful eye examination. As the ocular manifestations in this syndrome are variable anomalies of retinal and optic disk dysplasia, we prefer the term "papillo-renal syndrome".

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Since the use of testicular spermatozoa in programs of assisted fertilization proved very successful, attention was focussed on the use of spermatids also carrying 23 chromosomes. Several difficulties became obvious; the first one concerned the recognition of round spermatids. This is a problem which does not concern elongating and elongated cells. The intra-cytoplasmic injection of elongated spermatids resulted in several pregnancies but this is not so for the round ones. Although, in the group of patients in whom only round spermatids are found at the time of the attempt, is to be divided into two categories; patients in whom previous research allowed to find spermatozoa, however few, and patients who never produced spermatozoa at all. This last group is no longer an indication for intracytoplasmic sperm injection procedure unless in the future new culture media allow a maturation into elongated forms.

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