ABSTRACT
Sixty-nine patients with true and pseudohermaphroditism were ascertained by a multispeciality team during the period from January 1979 until December 1988 and were categorized into three groups: [1] true hermaphroditism and mixed gonadal dysgenesis; [2] female pseudohermaphroditism, and [3] male pseudohermaphroditism. This study presents a decade of experience and emphasizes the importance of early diagnosis, particularly in female pseudohermaphroditism
Subject(s)
Disorders of Sex Development/diagnosis , Sexual Dysfunction, PhysiologicalABSTRACT
Bardet-Biedl syndrome [BBS] is reported in an Arab family with three female siblings, including twins. The twin pair is also concordant for benign acanthosis nigricans, which is considered a helpful marker in zygosity determination. There is significant variation in the BBS features in the twins and their sister
Subject(s)
Twins , Genetic CounselingABSTRACT
A Kuwaiti brother and sister [with 4 sibs and 4 half sibs], products of a consanguineous marriage of second-degree cousins, showed a clinical, biochemical, electro-myographic, and histopathological profile of pseudohypertrophic Duchenne muscular dystrophy with normal chromosome constitution. The findings support the concept of severe progressive limb-girdle muscular dystrophy with autosomal recessive inheritance. Preliminary studies of DNA samples by cDNA probes from the Duchenne/Becker locus have ruled out a possible deletion of the X-chromosome. This disease is rare in Britain and North America, but is more common in inbred Arab communities and in people originally from Switzerland
Subject(s)
Genetic Diseases, Inborn/etiology , Genes, RecessiveABSTRACT
In Kuwait, 310 unselected sterile men were examined for karyotypes by different banding techniques from January 1980 till December 1988. Eighty-four patients with various major chromosomal abnormalities [MCAs] were detected [27.1%]. Among azoospermic men, 43% were chromosomally abnormal. The ratio of numerical to structural abnormalities was 19:1. In 11 world-wide surveys representing 10,011 subfertile men, the results showed striking variation. The lowest figure of MCAs was from Edinburgh [2.1%], the highest from Norway [9.2%], and the mean was found to be 6.9%. This paper discusses the possible causes of clustering of chromosomally derived sterility among an unselected sterile male population in Kuwait