Clinical features and fertility outcomes of rare patients with globozoospermia syndrome / 中国医师杂志

Objective:To observe the clinical characteristics and reproductive outcome of patients with globozoospermia syndrome (also called round-headed spermatozoa).Methods:The data of 5 patients with round-headed spermatozoa and 20 healthy men in the reproductive center of Shanxi Maternal and Child Hospital and Shanxi People′s Hospital from July 2016 to March 2020 were collected. Among them, the wife was healthy. The peripheral blood chromosome, AZF gene, semen routine and morphology, sex hormone series were detected for the man, and the outcome of intracytoplasmic sperm injection (ICSI) was observed for the patients.Results:The average length of infertility in 5 patients with round-headed sperm was (4.4±1.8)years, and the round-headed sperm rate of 5 patients were all over 95% (including 1 case with round-headed sperm rate of 99%, 3 cases with round-headed sperm rate of 98%, and 1 case with round-headed sperm rate of 96%). The chromosome, AZF gene of 5 patients were normal. The sperm motility [progressive motility(PR) rate+ non progressive motility (NP) rate] of patients with globozoospermia syndrome was significantly lower than that of the healthy control group ( P<0.05). There was no significant difference in sex hormone, sperm count, sperm density, PR(%) and sperm DNA fragmentation rate compared with normal fertility group ( P>0.05). All the 5 patients were treated by assisted reproductive technology with ICSI. Two patients were pregnant, including one patient with abortion and one patient with singleton. Conclusions:There are no other abnormal phenotypes in patients with round-headed spermatozoa except for the low morphology and motility of round headed spermatozoa. Assisted reproductive technology may be an effective way to assist pregnancy.

Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility / 亚洲男科学杂志(英文版)

Globozoospermia has been reported to be a rare but severe causation of male infertility, which results from the failure of acrosome biogenesis and sperm head shaping. Variants of dpy-19-like 2 (DPY19L2) are highly related to globozoospermia, but related investigations have been mainly performed in patients from Western countries. Here, we performed a screening of DPY19L2 variants in a cohort of Chinese globozoospermic patients and found that five of nine patients carried DPY19L2 deletions and the other four patients contained novel DPY19L2 point mutations, as revealed by whole-exome sequencing. Patient 3 (P3) contained a heterozygous variant (c.2126+5G>A), P6 contained a homozygous nonsense mutation (c.1720C>T, p.Arg574*), P8 contained compound heterozygous variants (c.1182-1184delATC, p.Leu394_Ser395delinsPhe; c.368A>T, p.His123Arg), and P9 contained a heterozygous variant (c.1182-1184delATCTT, frameshift). We also reported intracytoplasmic sperm injection (ICSI) outcomes in the related patients, finding that ICSI followed by assisted oocyte activation (AOA) with calcium ionophore achieved high rates of live births. In summary, the infertility of these patients results from DPY19L2 dysfunction and can be treated by ICSI together with AOA.

Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility / 亚洲男科学杂志(英文版)

Globozoospermia has been reported to be a rare but severe causation of male infertility, which results from the failure of acrosome biogenesis and sperm head shaping. Variants of dpy-19-like 2 (DPY19L2) are highly related to globozoospermia, but related investigations have been mainly performed in patients from Western countries. Here, we performed a screening of DPY19L2 variants in a cohort of Chinese globozoospermic patients and found that five of nine patients carried DPY19L2 deletions and the other four patients contained novel DPY19L2 point mutations, as revealed by whole-exome sequencing. Patient 3 (P3) contained a heterozygous variant (c.2126+5G>A), P6 contained a homozygous nonsense mutation (c.1720C>T, p.Arg574∗), P8 contained compound heterozygous variants (c.1182-1184delATC, p.Leu394-Ser395delinsPhe; c.368A>T, p.His123Arg), and P9 contained a heterozygous variant (c.1182-1184delATCTT, frameshift). We also reported intracytoplasmic sperm injection (ICSI) outcomes in the related patients, finding that ICSI followed by assisted oocyte activation (AOA) with calcium ionophore achieved high rates of live births. In summary, the infertility of these patients results from DPY19L2 dysfunction and can be treated by ICSI together with AOA.

Routine semen parameters and sperm morphological index of infertile males with partial globozoospermia / 中华男科学杂志

Objective@#To investigate the routine semen parameters and sperm morphological indexes of the patients with partial globozoospermia (PGZ).@*METHODS@#We included in this study 100 infertile males with PGZ and another 180 non-PGZ infertile men as controls. According to the proportion of round-headed sperm (RHS) in the semen, we classified the PGZ males into five subgroups: 25%－40%, 41%－55%, 56%－70%, 71%－85%, and 86%－99% RHS. We obtained sperm concentration, total sperm motility, the percentage of progressively motile sperm, teratozoospermia index (TZI), and sperm deformity index (SDI) from the subjects and compared them among different groups.@*RESULTS@#Statistically significant differences were found between the PGZ patients and non-PGZ controls in total sperm motility (［35.76±24.88］% vs ［62.03±10.20］%, P0.05), sperm concentration (［46.01±40.38］ vs ［54.00±25.15］ ×106/ml, P>0.05), or TZI (1.35±0.11 vs 1.34±0.54, P>0.05). There were also significant differences among the five PGZ subgroups in total sperm motility, progressive sperm motility, normal sperm morphology, TZI, and SDI (P0.05). Morphologically, the sperm head changed from heterogeneous to homogeneous with the increased proportion of round-headed sperm.@*CONCLUSIONS@#Different proportions of round-headed sperm are closely related to routine semen parameters and sperm morphological index in PGZ patients, which can help clinicians choose the proper assisted reproductive technology and predict the rate of fertilization for infertile males.

A Case of Globozoospermia Conceived by Intracytoplasmic Sperm Injection / 대한산부인과학회잡지

Human sperm are not only pleomorphic but also tend to show large numbers of obvious abnormalities that may be associated with infertility. It is known that the greater the numbers of abnormalities present in each sperm (teratozoospermic index) relates closely to abnormalities in sperm function and the presence of infertility. The variation in morphology that may be seen among human sperm involve the head, midpiece and tail. An oval head is deemed to be normal but many shape and size variations can be seen in an ejaculate, and these include large, small or tapering heads. Amorphous heads are now known to be associated with chromosomal anomalies and a sperm may even show the presence of a double head. Another anomaly of sperm morphology that is occasionally seen is the abnormality known as globozoospermia. In this condition, the sperm head lacks an acrosome and, as a consequence, the head of each spermatozoon becomes rounded. We have experienced a case of globozoospermia which was conceived by intracytoplasmic sperm injection. So we report this case with a brief review of literatures.

Twin Pregnancy and Delivery After Intracytoplasmic Sperm Injection Followed by Calcium Ionophore with Spermatozoa from a Globozoospermic Man: A Case Report / 대한산부인과학회잡지

Our purpose is to describe a successful twin pregnancy and delivery after intracytoplasmic sperm injection (ICSI) followed by calcium ionophore with spermatozoa from a globozoospermic man. On the second attempt of ICSI, all of eight metaphase II oocytes were fertilized with treatment with calcium ionophore. Day 3 transfer of six normally developing embryos resulted in an ongoing twin pregnancy, and two preterm healthy babies were born in the 33th week of gestation. To the best of our knowledge, this is the first report of pregnancy and delivery after ICSI followed by calcium ionophore with spermatozoa from a globozoospermic man in Korea.