Genetics of Male Infertility - Other conditions

Kallman’s syndrome: 

Hypogonadotropic hypogonadism, anosmia and male infertility are characteristics of Kallman’s syndrome. In most cases the mode of transmission is X linked recessive. However, autosomal dominant or recessive inheritance pattern have also been reported in some families. The gene responsible for the X linked form is on the Xp22.3 (KAL locus). Lack of hypothalamic secretion of gonadotrophin- releasing hormone (GnRH) is the important endocrinological defect. Thus these individuals have very low or undetectable levels of follicle stimulating hormone (FSH), leutinising hormone (LH) and testosterone.

Prader Willi Sydrome: 

Hypothalamic deficiency of GnRH is the basic defect of this syndrome. In approximately 75% of the cases the cause is the deletion of region 15q11.13 on the chromosome inherited from the patient’s father. In the remaining 25% of the cases no deletion was identified but both chromosome 15s were inherited from their mother (uniparental disomy).

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