New fibrous sheath anomaly in spermatozoa of men with consanguinity

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New fibrous sheath anomaly in spermatozoa of men with consanguinity Denise Escalier, Ph.D., Martine Albert, M.D.  Fertility and Sterility  Volume 86, Issue 1, Pages 219.e1-219.e9 (July 2006) DOI: 10.1016/j.fertnstert.2005.12.042 Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 1 Family pedigree of Patient 1 (arrow). His parents are first cousins once removed. One brother of the patient’s mother and one brother of the patient did not have children. Two brothers and one sister were not married. Escalier. Fibrous sheath anomaly and consanguinity. Fertil Steril 2006. Fertility and Sterility 2006 86, 219.e1-219.e9DOI: (10.1016/j.fertnstert.2005.12.042) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 2 Flagella characteristics of Patient 1’s sperm. (a) Light microscopy of the spermatozoa showing the presence of normal-length flagella and truncated flagella (black bar: 5 μm). (b) Distribution histogram of the flagella lengths as compared with those of a patient’s sperm with normal motility and morphology. Escalier. Fibrous sheath anomaly and consanguinity. Fertil Steril 2006. Fertility and Sterility 2006 86, 219.e1-219.e9DOI: (10.1016/j.fertnstert.2005.12.042) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 3 Electron microscopy general view of Patient 1’s spermatozoa. (a) Longitudinal section of sperm heads and necks of four spermatozoa. Three spermatozoa appear normal, whereas the fourth has a poorly elongated nucleus (black bar: 3 μm). (b) Transverse sections of the flagella. The sections at the level of the principal piece show an atypical fibrous sheath. The longitudinal columns are present, but the ribs are discontinuous. A section at the level of the middle piece appears normal. One spermatozoon exhibits a coiled flagellum in a cytoplasmic remnant that also contains anomalous ribs of the fibrous sheath (white bar: 0.4 μm). Escalier. Fibrous sheath anomaly and consanguinity. Fertil Steril 2006. Fertility and Sterility 2006 86, 219.e1-219.e9DOI: (10.1016/j.fertnstert.2005.12.042) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 4 Ultrastructural morphology of Patient 1’s sperm flagella (N in b [cross section] and h [longitudinal section] are normal flagella, for comparison) (a–g: flagella cross sections; h–k: flagella longitudinal/tangential sections). (a) The middle piece appears normal. Longitudinal section of the principal piece showing absence of the fibrous sheath on one side and dissociation of broken doublets from the axoneme. (b) Principal piece of a normal flagellum showing the two circumferential ribs (R) of the fibrous sheath inserted on two columns (LC). (c) Very proximal region of the principal piece showing an unilateral fibrous sheath with only one longitudinal column and superposition of ribs on the same side. Six doublets are present under the plasma membrane. (d) Proximal region of the principal piece showing the absence of ribs’ medium region and two atypical fibrous sheath elements (arrows), which could correspond to longitudinally orientated ribs, as seen in j. Five supernumerary doublets are found, of which two are near the axoneme and three are near the plasma membrane. (e) A distal region of the principal piece showing that the plasma membrane is invaginated in front of the missing ribs portions (arrows). (f) A terminal region of the principal piece with only a small mass of the fibrous sheath instead of a circular rib (arrow). (g) Two flagella showing incomplete ribs, additional doublets (section on the left) and two incomplete axonemes (section on the right). (h) A normal flagellum showing the organization a longitudinal column (LC) on which the ribs (R) are inserted and regularly spaced. (i) A proximal region of the principal piece showing a longitudinal column on both sides near the annulus. More distally, the fibrous sheath is poorly present on the right side, and ribs do not extend around the flagellum on the left side. Notice the wavy plasma membrane (arrows). (j) A principal piece showing longitudinally orientated ribs. (k) A principal piece showing ribs with various orientations. Black bars: a–g, 0.1 μm; h–k, 0.2 μm. Escalier. Fibrous sheath anomaly and consanguinity. Fertil Steril 2006. Fertility and Sterility 2006 86, 219.e1-219.e9DOI: (10.1016/j.fertnstert.2005.12.042) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 5 Ultrastructural morphology of the Patients 2’s sperm flagella. (a) Spermatozoa showing a high incidence of irregular and vesiculated nuclei (black bar: 5 μm). (b) Longitudinal section of a spermatozoon showing a coiled flagellum with an incomplete fibrous sheath. The nucleus is ill shaped, and the acrosome is short (black bar: 2 μm). (c) Sections of coiled flagella with a fibrous sheath lacking ribs on one side (black bar: 0.5 μm). (d) Two axonemal sections of a flagellum, each lacking doublets, and one with displaced doublets. The fibrous sheath near each axonemal complex has incomplete ribs (black bar: 0.2 μm). (e) Tangential section of a principal piece showing longitudinal and oblique distributions of the ribs (black bar: 0.5 μm). Escalier. Fibrous sheath anomaly and consanguinity. Fertil Steril 2006. Fertility and Sterility 2006 86, 219.e1-219.e9DOI: (10.1016/j.fertnstert.2005.12.042) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions