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A pregnancy after intracytoplasmic sperm injection of an immotile sperm selected by using hypo-osmotic swelling test from a patient with Kartagener’s syndrome

June 11, 2015

Severe asthenospermia is defined as less than 5% motile sperm. Zero motility (complete asthenospermia) is an uncommon condition and usually requires a thorough ultra-structural evaluation using electron microscopy.  Specific ultrastructural defects of the sperm as  absent dynein arms, other axonemal defects, mitochondrial abnormalities, disorganized fibrous sheath or outer dense fibers may be found. Standard semen analyses usually show normal sperm concentrations and morphology but there may be tail abnormalities: short, straight, or thick tails, or midpiece defects. Viability tests help to distinguish this group of patients from those with necrospermia (dead sperm). The hypo-osmotic swelling test (HOS) is a sperm viability test based on the semi-permeability of the intact cell membrane, which causes spermatozoa to “swell” under hypoosmotic conditions.

Kartagener’s syndrome is characterized by the combination of chronic sinusitis, situs inversus, and bronchiectasis. Semen analyses of patients with this syndrome are invariably characterized by zero motility.

I present  a successful outcome of an intracytoplasmic sperm injection treatment of an immotile sperm, selected by using hypo-osmotic swelling test, from a patient with Kartagener’s syndrome.

The couple presented with 24 months of primary infertility. The 30-year-old husband was of Turkish origin with his parents being first cousins. He was previously diagnosed with Kartagener’s syndrome and had a respiratory history which included: 1) recurrent episodes of bronchitis (at least three episodes per year requiring antibiotic therapy) 2) recurrent episodes of sinusitis 3) Asthma managed with inhalation therapy. A recent cilial function testing found a ciliary beat frequency of close to 0. This calculated ciliary beat was interpreted as being well within the range described for classic primary ciliary dyskinesia. His lung function showed an FEV1 of 46% and FVC of 57%.

After birth he was diagnosed with Hirschsprung’s disease and hypospadias which were surgically treated.

A physical examination revealed a short stature (160cm) man with marked scoliosis and dextrocardia. Testes were normal in volume – 16 mL on the right and 18 mL on the left. There was no reported family history of familial infertility.

His serum FSH (2.5 IU/L), LH (4.2 IU/L) levels and karyotype were normal. Semen analyses showed sperm concentrations of 9-19 million/ml, volumes 2.5-3.5 mL, 93-97% abnormal forms and 44-74% of sperm viable by dye-exclusion.  All sperm were immotile, and the majority were structurally abnormal.

Transmission electron microscopy showed marked degenerative changes with disrupted cell membranes, absent intact acrosomes and gross abnormalities of the structure of the tails. Many cells appeared to be sperm released with greater than normal cytoplasm surrounding the mid-piece.Several sperm appeared to have “dislocated” heads, more easily verified in a standard semen analysis. Many heads appeared “moth-eaten”. Most axonemes were hard to visualise and the component microtubules were hard to visualise, certainly appearing to lack central microtubules. The outer dense fibres lacked their normal distinct edge and the numbers varied especially in the principal-piece.

Management

After proper consultations and consent, ICSI was undertaken using hypo-osmotic swelling test for viable sperm selection.

A total of 4 oocytes were collected after FSH-antagonist ovarian stimulation. Three oocytes were mature and were suitable for sperm injection. Two of three oocytes were fertilized and a single Day 2 embryo was   transferred. Two weeks later the patient was tested  positive for herpregnancy test.