Causes of Male infertility - Other Syndromes
Key points
- Noonan Syndrome Also called male Turner syndrome, Noonan syndrome is associated with clinical features similar to Turner syndrome (45,X).
- Myotonic Dystrophy Myotonic dystrophy is the most common reason for adult-onset muscular dystrophy.
- Vanishing Testis Syndrome Also called bilateral anorchia, vanishing testis syndrome is rare, occurring in 1:20,000 males.
- Sertoli-Cell-Only Syndrome Also referred to as germ cell aplasia, the hallmarks of Sertoli-cell-only syndrome are an azoospermic male with testes biopsies that show the presence of all testis cell types except for germinal epithelium.
A. Noonan Syndrome
Also called male Turner syndrome, Noonan syndrome is associated with clinical features similar to Turner syndrome (45,X). However, the karyotype is either normal (46,XY) or mosaic (X/XY). Typically, patients have dysmorphic features like webbed neck, short stature, low-set ears, wide-set eyes, and cardiovascular abnormalities. At birth, 75% have cryptorchidism that limits fertility in adulthood. If testes are fully descended, then fertility is possible and likely. Associated FSH and LH levels depend on the degree of testicular function.
B. Myotonic Dystrophy
Myotonic dystrophy is the most common reason for adult-onset muscular dystrophy. In addition to having myotonia, or delayed relaxation after muscle contraction, patients usually present with cataracts, muscle atrophy, and various endocrinopathies. Most men have testis atrophy, but fertility has been reported. Infertile men may have elevated FSH and LH with low or normal testosterone, and testis biopsies show seminiferous tubule damage in 75% of cases. Pubertal development is normal; testis damage seems to occur later in life.
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Written and revised by
Gerald Hurowitz, M.D.
Our doctors write and review articles for accuracy and keep them up to date.
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