First successful pregnancy in a globozoospermic patient having homozygous mutation in SPATA16

Nilay Karaca; Rabiye Yilmaz; Gulcin E Kanten; Elif Kervancioglu; Seyhun Solakoglu; M Ertan Kervancioglu

doi:10.1016/j.fertnstert.2014.04.002

First successful pregnancy in a globozoospermic patient having homozygous mutation in SPATA16

Fertil Steril. 2014 Jul;102(1):103-7. doi: 10.1016/j.fertnstert.2014.04.002. Epub 2014 May 10.

Authors

Nilay Karaca¹, Rabiye Yilmaz², Gulcin E Kanten², Elif Kervancioglu³, Seyhun Solakoglu⁴, M Ertan Kervancioglu⁵

Affiliations

¹ IVF Center, 29 Mayis Hospital, Istanbul, Turkey. Electronic address: karacanilay@hotmail.com.
² IVF Center, 29 Mayis Hospital, Istanbul, Turkey.
³ Histology and Embryology Department, Istanbul University, Istanbul School of Medicine, Istanbul, Turkey.
⁴ Histology and Embryology Department, Marmara University, School of Medicine, Istanbul, Turkey.
⁵ Obstetric and Gynecology Department, IVF Center, Istanbul University, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey.

PMID: 24825417
DOI: 10.1016/j.fertnstert.2014.04.002

Abstract

Objective: To report the first case of a successful pregnancy obtained with an infertile 29-year-old man with a homozygous mutation in the spermatogenesis-specific gene SPATA16 after intracytoplasmic sperm injection (ICSI).

Design: Case report.

Setting: Assisted reproductive technology (ART) center.

Patient(s): A couple who suffered from infertility of whom the husband was globozoospermic and carrying a homozygous mutation in the spermatogenesis-specific gene SPATA16.

Intervention(s): Clinical and histopathological evaluation, transmission electron microscopy, stimulation with fixed antagonist protocol, ICSI, activation of fertilization.

Main outcome measure(s): In vitro fertilization and pregnancy.

Result(s): Oligoasthenoteratozoospermia was revealed in semen analysis. Total globozoospermia was detected. Chromatin condensation pattern was detected abnormal in 88% of spermatozoa with aniline blue staining. During the ART cycle 12 oocytes were collected. Eleven oocytes were at the metaphase II and one was at the germinal vesicle stage. After the injection, one oocyte fertilized on the following day; the 4-cell stage embryo was transferred. Pregnancy occurred and a healthy boy was delivered after 42 weeks of gestation.

Conclusion(s): This is the first report of a pregnancy obtained in a man with homozygous SPATA16 mutated globozoospermia.

Keywords: Globozoospermia; SPATA16 gene mutation; intracytoplasmic sperm injection.

Publication types

Case Reports

MeSH terms

Adult
DNA Mutational Analysis
Embryo Transfer
Female
Genetic Predisposition to Disease
Homeodomain Proteins / genetics*
Homozygote*
Humans
Infertility, Male / diagnosis
Infertility, Male / genetics*
Infertility, Male / physiopathology
Infertility, Male / therapy
Live Birth
Male
Mutation*
Phenotype
Pregnancy
Sperm Injections, Intracytoplasmic
Spermatogenesis / genetics*
Treatment Outcome
Vesicular Transport Proteins

Substances

Homeodomain Proteins
SPATA16 protein, human
Vesicular Transport Proteins