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Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile.

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Presentation on theme: "Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile."— Presentation transcript:

1 Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile sperm and structurally abnormal sperm tails  Robert I. McLachlan, M.D., Tomomoto Ishikawa, Ph.D., Tiki Osianlis, Ph.D., Phil Robinson, Ph.D., Donna Jo Merriner, B.Sc., David Healy, B.Med.Sci., Ph.D., David de Kretser, M.D., Moira K. O’Bryan, Ph.D.  Fertility and Sterility  Volume 97, Issue 2, Pages (February 2012) DOI: /j.fertnstert Copyright © 2012 American Society for Reproductive Medicine Terms and Conditions

2 Figure 1 Structural and ultrastructural defects observed in the sperm of a patient with variant PCD. (A) A sperm smear stained with hematoxylin and eosin, showing the high frequency of decapitated sperm or those with shortened and thickened sperm tails. (B–G) Transmission electron microscopy images of ejaculated sperm, showing abnormal centriole formation (c), shortened midpieces (mp), abnormal mitochondrial packing (m), missing annuli (∗), misplaced microtubules (mt), the presence of aggregates of fibrillar material (f), flimsy fibrous sheath ribs (fs ribs), missing axoneme central microtubules, and missing or additional outer dense fibers (odf). (H) Testicular biopsy material stained with Masson trichrome stain, showing the presence of all germ cells types but in reduced numbers (hypospermatogenesis). The presence of highly condensed spermatids close to the basement membrane (arrows) was suggestive of a partial failure of spermiation. Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2012 American Society for Reproductive Medicine Terms and Conditions

3 Figure 2 Schematic representation of (A, B) the formation of the normal midpiece during the later half of spermiogenesis and (C, D) a potential explanation of the defects observed in the present patent. (A, B) During normal midpiece formation, the annulus moves distally, progressively lengthening the distance from the connecting-piece and allowing space for the helical packing of mitochondria. In conjunction with this lengthening, a microtubular body forms within the lobe of cytoplasm containing the growing axoneme and accessory structures. The microtubular body appears to form a scaffold around the axoneme for the developing ribs of the fibrous sheath within what will ultimately form the principal piece of the sperm. Fibrous sheath development occurs in a distal-to-proximal direction. (C, D) Data on the present patient suggest both defective annulus formation/function and defective microtubular body formation. As a consequence of a failure to increase the connecting piece to annulus distance, mitochondria fail to aggregate around the midpiece and remain clumped in the cytoplasmic lobes. Defective microtubular body formation results in the unstructured aggregation of fibrous sheath precursor–like material and flimsy fibrous sheaths in the principal piece. Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2012 American Society for Reproductive Medicine Terms and Conditions


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