Hermanos 29 and 30 years old married and without children, with a history of infertility and frequent sinusitis and recurrent respiratory infections for many years, although deny having suffered them in childhood.
Mother and sister had chronic non-affiliated bronchopathy.
Normal chest without pulmonary or sinus involvement.
On physical examination of both brothers, sister and mother, only the presence of snoring on pulmonary auscultation is highlighted.
No clinical history of both paternal and maternal ancestry could be obtained.
Normal ordinary biochemistry, including liver and kidney function tests
Alpha-1-antitrypsin was normal.
Proteinogram and immunoglobulins were normal.
Normal thyroid hormones
Markers of hepatitis B virus and human immunodeficiency virus negative.
Antinuclear antibodies, rheumatic tests, C3 and C4 fractions were negative.
Basal gas and normal bicarbonate
Normal spirometry.
Normal Hb saturation.
Chest X-ray was normal.
Both brothers and sister and mother refused to perform a biopsy of the respiratory mucosa for ultrastructural study of the cilia.
Semen analysis indicates total sperm viability in 3 different siblings performed with both brothers, with a mean sperm concentration of 23 million/ml, a percentage of normal shapes by criteria of K.
The ultrastructural study of the flagella is characterized by the presence of both brothers and sisters with the same anomaly.
In most cross-sectional sections is absence of both dynein arms.
Acquirement of nexin is present, as well as radial fibers and central pair.
In isolated spermatozoa with absence of dynein arms, there is also loss of the central pair.
No abnormality was found in the fibrous sheath or loss of tapering fibers.
The intermediate piece in approximately half of the cases had a decrease in the number of nonlinear extra mitochondria and mitochondria.
Additional data were the presence of extra peripheral microtubules to axonema.
