The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Table 5
Genetic Conditions in Which Male Infertility Is a Feature
Condition Mode of Inheritance Incidence Features
XX sex reversal X-Y recombination in 80%; 1 : 20,000 Male appearance, gonadal dysgenesis,
? cause in 20% hypogonadotropic hypogonadism; azoospermia
Persistent Müllerian Two or three types; autosomal Rare Cryptorchidism, pseudohermaphroditism, gonadal
duct syndrome recessive dysgenesis, anti-Müllerian hormone deficiency or
anti-Müllerian receptor deficiency; azoospermia
Testosterone synthesis defects Three types; autosomal recessive Rare Pseudohermaphroditism; low testosterone
5-α-reductase deficiency Autosomal recessive, male limited Rare Sex ambiguity; pseudohermaphroditism
Kennedy disease X-linked recessive, trinucleotide 1 : 50,000 Spinal bulbar and muscular atrophy; gynecomastia;
repeat disorder azoospermia and oligospermia
Luteinizing hormone deficiency Autosomal recessive Rare Hypogonadism; azoospermia
Luteinizing hormone receptor Two types: autosomal recessive and Rare Recessive: female phenotype, pseudohermaphroditism
defect autosomal dominant, male limited Dominant: male phenotype, precocious puberty
Idiopathic hypogonadotropic Two types, both autosomal recessive ? GnRH deficiency; azoospermia, pubertal delay
hypogonadism Rare GnRH receptor mutation; same phenotype
Cystic fibrosis Autosomal recessive 1 : 2500 Pulmonary and gastrointestinal problems; CBAVD
Congenital bilateral (and 1-2% of males Azoospermia, often with upper respiratory
some unilateral) absence of with infertility problems/mild form of cystic fibrosis
the vas deferens (CBAVD)
254 Linda Marie Randolph