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

Capsule:
We present a case of variant primary ciliary dyskinesia with complete asthenozoospermia and reduced respiratory function. Testicular sperm extraction was used to retrieve improved-quality sperm, and a healthy child was achieved with the use of intracytoplasmic sperm injection.

Authors:
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.
Volume 97, Issue 2 , Pages 313-318, February 2012

Objective:
To report on the investigation and fertility management of variant primary ciliary dyskinesia (PCD).

Design:
Case report.

Setting:
University-affiliated assisted reproductive technologies practice.

Patient(s):
A 40-year-old man presenting with 12 months’ primary infertility, complete sperm immotility, severe morphologic defects, and moderate sinopulmonary disease.

Intervention(s):
Electron microscopy (EM) of sperm, nasal cilial function studies, open testis biopsy, and sperm extraction for intracytoplasmic sperm injection (ICSI).

Main Outcome Measure(s):
Outcome of ICSI treatment using immotile testicular sperm.

Result(s):
EM revealed abnormal connecting pieces, shortened midpieces with attenuated mitochondrial sheaths, poorly developed annulus, abnormal outer dense fibers, and axonemes missing the two central mircotubules. Nasal ciliary beat frequency was subnormal and dyssynchronous. Immotile testicular sperm were selected for ICSI based on physical characteristics and fertilized 12 of 18 eggs. A single day-5 blastocyst achieved a normal pregnancy and delivery of a healthy 3,840-g girl at 38 weeks’ gestation.

Conclusion(s):
Nonclassic PCD may present with structurally abnormal completely immotile sperm, with seemingly little prospect of fertility, and moderate respiratory dysfunction supporting the presence of an underlying ciliopathy. Despite testicular sperm also being immotile and showing profound structural defects that would seem to preclude fertilization, more morphologically normal sperm are capable of establishing a normal pregnancy.

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