Detection of pathogenic variants in four patients with globozoospermia / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for 4 patients with globozoospermia.@*METHODS@#Semen and blood samples were collected from the patients for the determination of sperm concentration, viability, survival rate, morphology and acrosome antigen CD46. Meanwhile, DNA was extracted for whole exome sequencing (WES), and candidate variants were validated by Sanger sequencing.@*RESULTS@#All of the four patients were found to harbor variants of the DPY19L2 gene. Patients 1 ~ 3 had homozygous deletions of the DPY19L2 gene. Sanger sequencing confirmed that the DPY19L2 gene in patient 3 was disrupted at a recombination breakpoint area BP2, resulting in nonallelic homologous recombination and complete deletion of the DPY19L2 gene. Patients 2 and 3 respectively harbored novel homozygous deletions of exons 2 ~ 22 and exons 14 ~ 15. Patient 4 harbored heterozygous deletion of the DPY19L2 gene, in addition with a rare homozygous deletion of the 3' UTR region.@*CONCLUSION@#DPY19L2 gene variants probably underlay the globozoospermia in the four patients, which has fit an autosomal recessive pattern of inheritance and the characteristics of genomic diseases.

Biallelic mutations in WDR12 are associated with male infertility with tapered-head sperm / 亚洲男科学杂志(英文版)

Teratozoospermia is a rare disease associated with male infertility. Several recurrent genetic mutations have been reported to be associated with abnormal sperm morphology, but the genetic basis of tapered-head sperm is not well understood. In this study, whole-exome sequencing (WES) identified a homozygous WD repeat domain 12 (WDR12; p.Ser162Ala/c.484T>G) variant in an infertile patient with tapered-head spermatozoa from a consanguineous Chinese family. Bioinformatic analysis predicted this mutation to be a pathogenic variant. To verify the effect of this variant, we analyzed WDR12 protein expression in spermatozoa of the patient and a control individual, as well as in the 293T cell line, by Western blot analysis, and found that WDR12 expression was significantly downregulated. To understand the role of normal WDR12, we evaluated its mRNA and protein expression in mice at different ages. We observed that WDR12 expression was increased in pachytene spermatocytes, with intense staining visible in round spermatid nuclei. Based on these results, the data suggest that the rare biallelic pathogenic missense variant (p.Ser162Ala/c.484T>G) in the WDR12 gene is associated with tapered-head spermatozoa. In addition, after intracytoplasmic sperm injection (ICSI), a successful pregnancy was achieved. This finding indicates that infertility associated with this WDR12 homozygous mutation can be overcome by ICSI. The present results may provide novel insights into understanding the molecular mechanisms of male infertility.

From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene / 亚洲男科学杂志(英文版)

Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing (WES), many genes have now been linked to severe sperm defects. A precise genetic diagnosis is obtained for a minority of patients and only for the most severe defects like azoospermia or macrozoospermia which is very often due to defects in the aurora kinase C (AURKC gene. Here, we studied a subject with a severe oligozoospermia and a phenotypic diagnosis of macrozoospermia. AURKC analysis did not reveal any deleterious variant. WES was then initiated which permitted to identify a homozygous loss of function variant in the zinc finger MYND-type containing 15 (ZMYND15 gene. ZMYND15 has been described to serve as a switch for haploid gene expression, and mice devoid of ZMYND15 were shown to be sterile due to nonobstructive azoospermia (NOA). In man, ZMYND15 has been associated with NOA and severe oligozoospermia. We confirm here that the presence of a bi-allelic ZMYND15 variant induces a severe oligozoospermia. In addition, we show that severe oligozoospermia can be associated macrozoospermia, and that a phenotypic misdiagnosis is possible, potentially delaying the genetic diagnosis. In conclusion, genetic defects in ZMYND15 can induce complete NOA or severe oligozoospermia associated with a very severe teratozoospermia. In our experience, severe oligozoospermia is often associated with severe teratozoospermia and can sometimes be misinterpreted as macrozoospermia or globozoospermia. In these instances, specific AURKC or dpy-19 like 2 (DPY19L2) diagnosis is usually negative and we recommend the direct use of a pan-genomic techniques such as WES.

Caracterización de la calidad del semen en hombres atendidos en un centro de reproducción asistida en Guayaquil, Ecuador / Description of the semen quality from men treated in an assisted reproduction center in Guayaquil, Ecuador

RESUMEN Con el objetivo de caracterizar la calidad seminal de hombres en un centro de reproducción asistida de la ciudad Guayaquil (Ecuador), se colectaron 204 muestras de semen de pacientes con problemas de fertilidad de entre 20 y 57 años, atendidos entre mayo de 2017 y septiembre de 2018. Se realizó un espermograma básico a cada muestra, siguiendo las recomendaciones del manual para la examinación y procesamiento de semen humano. El 27,4% de las muestras presentó normozoospermia. Dentro de las alteraciones la teratozoospermia fue de 27,9%, oligoteratozoospermia del 8,8%, evidenciándose mayor número en pacientes de 30 a 39 años. Un alto porcentaje de pacientes presentan una calidad del semen y morfología espermática por debajo los limites de referencia establecidos por la Organización Mundial de la Salud.

ABSTRACT In order to characterize the quality of semen from men in an assisted reproduction center in the city of Guayaquil (Ecuador), 204 semen samples were collected from patients with fertility disorders aged 20 to 57 years, who were admitted between May 2017 and September 2018. A basic spermogram was performed on each sample, following the fabricant recommendations for the examination and processing of human semen. It was found that 27.4% of the samples presented normozoospermia. Among the disorders, it was found that 27.9% had teratozoospermia, 8.8% had oligoteratozoospermia and a higher number of patients were found to be between 30 and 39 years old. A high percentage of patients presented sperm morphology and quality values below the reference limits established by the World Health Organization.

Analysis of (DPY19L2 gene variant in two brothers affected with globozoospermia / 中华医学遗传学杂志

OBJECTIVE@#To explore the molecular basis for two brothers affected with globozoospermia.@*METHODS@#Whole exome sequencing was carried out for both patients. Candidate variant was verified by Sanger sequencing and quantitative real-time PCR (qRT-PCR).@*RESULTS@#Whole exome sequencing, Sanger sequencing and qRT-PCR verification revealed a heterozygous c.384dup (p.Glu129*) variant in the DPY19L2 gene in the two brothers and their mother. A large heterozygous deletion, spanning approximately 164.5 kb and encompassing the entire DPY19L2 gene, was detected on chromosome 12 of the two patients and their father.@*CONCLUSION@#The c.384dup (p.Glu129*) variant and deletion of the DPY19L2 gene probably underlie the pathogenesis of globozoospermia in the two patients, which was in keeping with the autosomal recessive inheritance of disease in this pedigree.

Reference values (RV), MNS and MTS for morphological characteristics of normal and abnormal human spermatozoon describing Teratozoospermic Index (TZI) & Sperm Deformity Index (SDI) in Sudanese infertile couples using CASA System / Valores de referencia (RV), MNS y MTS para las características morfológicas de espermatozoides humanos normales y anormales que describen el Índice Teratozoospérmico (TZI) y el Índice de Deformidad del Esperma (SDI) en parejas infértiles de Sudán que utilizan el sistema CASA

A scientific determination of fertilization ability of the sperm can be made by motility, viability and morphological examinations that are called as potential fertility criteria. Some previous studies documented only the total morphological defect rates without including the morphologic subjects. As it is recorded in many studies, the success of IUI, ICSI and IVF depends mainly on the quality of the collected semen. 1) Determine and classify the common morphological defects and rates of sperms. 2) Analyze the effect of age on the sperm abnormalities and to assess the impact of environment on changing normal sperm characteristics. 3) Determine the common types of semen abnormalities (Asthenoterato-zoospermia, Asthenozoospermia, Azoopyospermia, Azoospermia, Hypospermia, Oligoasthenoteratozoospermia, Oligoasthenozoopyospermia, Oligoasthenozoospermia and Teratozoospermia). 4) Determine the range of teratozoospermic index (TZI) and sperm deformity index (SDI). A prospective case series study for 566 men of infertile couples who were requesting semen analysis was applied to those came to the ULTRALAB laboratory center main campus and ULTRALAB branch of the Sudan Assisted Reproduction Center (SARC), Khartoum, Sudan. Data collection was done for 20 months from April 1st, 2010 to December 31st, 2011. analysis of semen samples was done using Computer Assisted Semen Analysis (CASA). 1) The study demonstrates that there are differences in normality and abnormality of sperm morphology parameters of sperm between Sudanese population and other studies including WHO standards. 2) SDI and TZI were higher in overall semen as well as in abnormal semen samples. 3) Common semen abnormalities were oligoasthenoteratozoospermia, asthenoteratozoospermia and asthenozoospermia. There are differences in sperm morphology of both normal and abnormal parameters between Sudanese population and other studies including WHO standards.

Se realizó una determinación científica de la capacidad de fertilización de los espermatozoides mediante motilidad, viabilidad y exámenes morfológicos denominados criterios de fertilidad potencial. Algunos estudios previos documentan solamente el total de las tasas de defectos morfológicos sin incluir a los sujetos morfológicos. Como se registra en muchos estudios, el éxito de IUI, ICSI y FIV depende principalmente de la calidad del semen recolectado. Los objetivos de este trabajo fueron: 1) Determinar y clasificar los defectos morfológicos comunes y las tasas de espermatozoides; 2) Analizar el efecto de la edad en las anomalías de los espermatozoides y evaluar el impacto del medio ambiente en el cambio de las características normales de los espermatozoides; 3) Determinar los tipos comunes de anomalías en el semen (astenoterato-zoospermia, astenozoospermia, azoopiepermia, azoospermia, hipospermia, oligoastenoteratozoospermia, oligoastenozoopermia, oligoastenozoospermia y teratozoospermia); 4) Determinar el rango del índice teratozoospérmico (TZI) y el índice de deformidad del esperma (IDE). Se realizó un estudio prospectivo de series de casos en 566 hombres, de parejas infértiles, que solicitaban análisis de semen en laboratorios ULTRALAB y la sucursal de ULTRALAB del Centro de Reproducción Asistida de Sudán (SARC), Jartum, Sudán. La recolección de datos se realizó durante 20 meses, desde el 1 de abril de 2010 hasta el 31 de diciembre de 2011. El análisis de las muestras de semen se realizó mediante el análisis de semen asistido por computadora (CASA). Existen diferencias en la normalidad y anormalidad de los parámetros de la morfología de los espermatozoides entre la población sudanesa y otros estudios, incluidas las normas de la Organización Mundial de la Salud. Los parámetros SDI y TZI fueron más altos en el semen general, así como en muestras de semen anormales. Las anomalías comunes del semen fueron oligoastenatoatoospermia, astenoteratozoospermia y astenozoospermia. Existen diferencias en la morfología de los espermatozoides de los parámetros normales y anormales entre la población sudanesa y otros estudios que incluyen las normas de la Organización Mundial de la Salud.

Association of advanced oxidation protein products in seminal plasma with teratospermia and outcome parameters of fertilization / 南方医科大学学报

OBJECTIVE@#To study the association of the level of advanced oxidation protein products (AOPPs) in seminal plasma with teratospermia and the outcome parameters of fertilization (IVF).@*METHODS@#We conducted a cross-sectional study among 272 male patients receiving assisted reproduction treatment in the Center for Reproductive Medicine of our hospital between October, 2018 and March, 2019. The levels of seminal AOPPs and reactive oxygen species (ROS), demographic data, sperm parameters and IVF outcome parameters were analyzed for all the patients. According to the percentage of sperms with normal morphology, the patients were divided before IVF into teratozoospermia group and normal sperm morphology group, and those in teratozoospermia group were further divided into 3 subgroups with mild, moderate and severe teratozoospermia. The patients were also divided on the day oocyte retrieval into 2 groups with fertilizing rates lower (group Ⅰ) and higher (group Ⅱ) than the median rate.@*RESULTS@#We found a significant negative correlation of seminal AOPP level before treatment with the percentage of normal sperm morphology (=0.003) and seminal ROS level (=0.013). The seminal levels of AOPPs (= 0.027) and ROS (=0.036) were significantly elevated in patients with teratospermia, and seminal AOPP level was significantly higher in severe teratospermia group than in mild (=0.019) and moderate (=0.015) teratospermia groups. The seminal levels of AOPPs (=0.003) and ROS (=0.017) on the day of oocyte retrieval were negatively correlated with the fertilization rate in IVF cycles, and the levels of AOPPs (=0.049) and ROS (=0.036) were significantly higher in group Ⅰ than in group Ⅱ.@*CONCLUSIONS@#An elevated level of seminal AOPPs may indicate an increased risk of severe teratospermia and a lower fertilization rate in IVF.

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.

Autophagy is increased in cryptorchid testis resulting in abnormal spermatozoa / 亚洲男科学杂志(英文版)

Autophagy is involved in spermatogenesis by regulating germ cell maturation. This catabolic process increases with hyperthermic conditions to prevent the accumulation of damaged organelles. Cryptorchidism is associated with impairment of germ cell maturation revealed by the presence of immature forms of sperm cells in ejaculates. The aim of the present study was to evaluate the status of autophagy in sperm cells from cryptorchid patients. Semen samples of cryptorchid patients and normozoospermic controls were analyzed by immunocytochemistry and electron microscopy. Autophagy proteins, autophagy-related protein 9 (ATG9) and microtubule-associated protein, 1A/1B-light chain 3 (LC3) were localized by immunocytochemistry on the acrosome and on the equatorial segment of sperm cells. LC3 was also detected in the midpiece of cryptorchid sperm tail. Autophagy substrate p62 protein was present in the acrosome and in the postequatorial segment of sperm in control samples, but not in the cryptorchid ones. Transmission electron microscopy revealed double-membrane-limited autophagosomes in postequatorial part of spermatozoa head and midpiece in cryptorchid samples. Partly degraded mitochondria were frequently discerned in autophagic vacuoles. In conclusion, autophagy is increased in sperm cells from patients with cryptorchid history comparatively to control. Our work provides insights into the role of autophagy in the maturation and survival of human male gametes in pathological conditions. Thus, regulating autophagy could represent a potential way to improve sperm quality in cryptorchid men.

Microscopic sperm head damage and abnormalities as heat stress indicators in Australian Merino rams (Ovis aries) in Northern Patagonia, Argentina / Danos e anormalidades microscópicas das cabeças espermáticas como indicadores de estresse por calor em carneiros Merino Australiano (Ovis aries) da Patagônia Norte, Argentina

In Northern Patagonia, the mating season starts on March 15th, when rams are submitted to summer temperatures. Exposure of rams to heat stress increases the prevalence of microscopic damage to spermatozoa, morphological abnormalities, and reductions in fertility. This study assesses the adaptive capabilities of six unshorn and six shorn Australian Merino rams, half of which were treated in a heat chamber for eight hours for five days, gradually reaching a temperature of up to 40 °C. Microscopic damage, abnormalities and ultramicroscopic alterations of the plasma membrane and the acrosome of sperm head were analysed. There were significant differences in the percentage of tailless spermatozoa and proximal cytoplasmic droplets between post-treatment periods. Temperature primarily affected the shorn rams and the sperm heads during spermiogenesis. Submicroscopic alterations were observed when the plasma membrane was present in the anterior segment. These alterations can be intact, waved, or dilated. When the plasma membrane was absent, the acrosome might be intact, dilated, and waved. In addition, the outer acrosomal membrane may completely lose its contents or have a nude nucleus. The plasma membrane assumes a waved shape as a result of the effect of temperature on the epididymis. According to this study, the tailless head, proximal cytoplasmic droplets, and the ultramicroscopic categories studied were robust indicators of semen heat stress. After ten weeks, the sperm head recovered its normal shape. Unshorn rams are better adapted to summer heat stress than shorn ones. Microscopy and transmission electron microscopy alterations have been shown to be excellent indicators of thermal stress in Australian Merino rams and may be useful tools to help sheep farmers choose when to begin the mating season, which will vary depending on the environmental conditions of the summer.(AU)

Na Patagônia Norte, os ovinos têm sua estação de acasalamento iniciada em 15 de março, portanto, ficam sujeitos às temperaturas do verão. A exposição de carneiros a estresse térmico aumenta a prevalência de danos microscópicos e anomalias morfológicas nos espermatozoides, que implica uma redução na fertilidade. Este trabalho avaliou a capacidade adaptativa de carneiros Merino Australiano com lã (N = 6) e tosquiados (N = 6): metade ficou ao ar livre e outra metade foi mantida em uma câmara climática por oito horas, durante cinco dias, chegando gradualmente a uma temperatura máxima de 40 °C. Foram analisados danos microscópicos, anormalidades e alterações ultramicroscópicas da membrana plasmática e do acrossoma da cabeça dos espermatozoides. Os resultados microscópicos confirmaram a existência de diferença significativa na porcentagem de espermatozoides sem cauda e com gota citoplasmática proximal, entre os ejaculados pós-tratamento. A temperatura afetou os carneiros tosquiados, principalmente a cabeça de seus espermatozoides, durante a espermatogênese. Alterações submicroscópicas foram observados na membrana plasmática quando ela estava presente no segmento anterior: quando não intacta, ficava ondulada ou dilatada. Quando a membrana plasmática estava ausente, o acrossoma podia se apresentar ondulado ou dilatado. Além disso, sob efeito do calor, a membrana acrossomal externa pode perder completamente seu conteúdo ou apresentar núcleo desnudo. A membrana plasmática assume uma forma ondulada pelo efeito da temperatura no epidídimo. Depois de dez semanas, a cabeça dos espermatozoides recuperou sua forma normal. Como demonstrado neste estudo, a cabeça sem cauda, as gotas citoplasmáticas proximais e as categorias ultramicroscópicas estudadas são indicadores do efeito do estresse térmico no sêmen, e os carneiros com maior cobertura de lã se adaptam melhor ao estresse por calor. Alterações de microscopia e de microscopia eletrônica de transmissão têm se mostrado excelentes indicadores de estresse por calor em carneiros Merino Australiano e podem ser ferramentas úteis para ajudar criadores de ovelhas a escolher quando começar a época de acasalamento, o que irá variar de acordo com as condições ambientais do verão.(AU)

Genetic genes associated with oligospermia, asthenospermia and teratospermia: Advances in studies / 中华男科学杂志

Approximately 2,300 genes are found to be associated with spermiogenesis and their expressions play important roles in the regulation of spermiogenesis. In recent years, more and more attention has been focused on the studies of the genes associated with oligospermia, asthenospermia and teratospermia and their molecular mechanisms. Some genes, such as GSTM1, DNMT3L, and CYP1A1, have been shown to be potentially associated with oligospermia; some, such as CATSPER1, CRISP2, SEPT4, TCTE3, TEKT4, and DNAH1, with asthenospermia; and still others, such as DPY19L2 and AURKC, with teratospermia. These findings have provided a molecular basis for the studies of the pathogenesis of oligospermia, asthenospermia and teratospermia, as well as a new approach to the exploration of new diagnostic and therapeutic techniques.

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.

Idiopathic teratozoospermia is not correlated with c.144delC polymorphism in the AURKC gene in Sichuan / 中华男科学杂志

Objective@#To investigate the association of a very common mutation of c.144delC in the aurora kinase C (AURKC) gene with idiopathic teratozoospermia in Chinese infertile men in Sichuan.@*METHODS@#Using polymerase chain reaction (PCR) and next-generation sequencing, we analyzed the correlation between c.144delC polymorphism of the AURKC gene and male infertility in 98 idiopathic teratozoospermia patients in comparison with 162 normal fertile men.@*RESULTS@#Neither c.144delC mutation nor other meaningful mutations were detected in the AURKC gene in the 98 idiopathic teratozoospermia patients or the 162 normal controls.@*CONCLUSIONS@#Teratozoospermia is not correlated with c.144delC mutation in the AURKC gene in the men of the Sichuan area. Therefore, large-scale genotyping of the AURKC gene may not be necessary clinically among Chinese patients with idiopathic teratozoospermia.

Mutation analysis and treatment of a case with globozoospermia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore genetic mutation and clinical treatment for a patient with globozoospermia.</p><p><b>METHODS</b>Histomorphology of the sperms was studied by Wright-Giemsa staining and transmission electron microscopy. Potential mutation of the DPY19L2 gene was detected by PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>Wright-Giemsa staining showed that all spermatozoa from the patient were round-headed and lacked the acrosome, with the nuclei of sperm head stained in dark and full. Transmission electron microscopy revealed large round sperm heads, with an even layer of unit membrane surrounding the nuclei and dispersed cytoplasmic vacuoles but no acrosomal structure. The patient has harbored a homozygous deletion of the DPY19L2 gene. With intracytoplasmic sperm injection (ICSI) treatment, fertilization rate of the oocytes has reached 28.6%, which resulted in a successful pregnancy. A healthy male was born.</p><p><b>CONCLUSION</b>The homozygous deletion of DPY19L2 probably underlies the globozoospermia in this case, for which ICSI has provided an effective treatment. However, there is still a risk of low oocyte fertilization rate or fertilization failure. Further studies are required.</p>

Successful pregnanacy by in vitro fertilization using corifullitropin alfa (ELONVA) for controlled ovaian stimuation: The first reported local experience

The need for simplified in-vitro fertilization (IVF) treatment approaches with the aim of reducing treatment burden and to prevent drop-outs after a failed IVF cycle can be met by the use of corifollitropin alfa for COS in association with a GnRH antagonist protocol. This is a report of the first local case of a successful pregnancy using corifollitropin alfa in IVF. This is a case of a 33 year-old G3 PO (0030) whose partner has teratozoospermia. COS using corifollitropin alfa yielded eight mature oocytes with no occurrence of OHSS. Six oocytes were fertilized using ICSI with six good quality embryos reaching cleavage stage. Two grade 1 embryos at day 3 cleavage stage were transferred. A clinical pregnancy was documented at 7 weeks age of gestation. Congenital anomaly scanning at 24 weeks age of gestation revealed a grossly normal fetus. Patient delivered a healthy, live, term baby boy. Review of literature suggests that corifollitropin alfa is as effective as rFSH in delivering live birth rate, ongoing pregnancy rate and clinical pregnancy rate. The sustained and higher FSH immunoreactivity concentrations and the inability for dose adjustment after treatment with a single dose of corifollitropin compared with the daily rFSH regimen underscores the need for careful patient selection in the use of corifollitropin alfa.

Calidad del semen de obreros expuestos laboralmente a hidrocarburos / Semen quality of workers exposed to hydrocarbons

Se realizó un estudio comparativo entre dos grupos de trabajadores de la industria hulera mexicana. El primer grupo de estudio estuvo conformado por 48 obreros expuestos laboralmente a hidrocarburos aromáticos durante 2 a 24 años; el otro grupo lo integraron 42 trabajadores de áreas administrativas, no expuestos a hidrocarburos ni a otros tóxicos. Nuestro objetivo fue describir y comparar las características del semen de ambos grupos para conocer algunos de los efectos adversos que tiene la exposición crónica a hidrocarburos sobre la reproducción masculina manifestados a través de los cambios en la calidad del semen. La concentración de los hidrocarburos del ambiente laboral fue cuantificada por monitoreo continuo de todas las áreas de la fábrica durante las jornadas de trabajo. El estudio de las muestras de semen de ambos grupos se realizó de acuerdo con los criterios establecidos por la Organización Mundial de la Salud. Los hidrocarburos encontrados en el ambiente laboral fueron etilbenceno (220.7-234 mg/m3 ), benceno (31.9-47.8 mg/m3), tolueno (189.7-212.5 mg/m3) y xileno (47-56.4 mg/m3). El análisis de las características del semen de ambos grupos demostró mayor porcentaje de varones normozoospérmicos (76%) en el grupo de trabajadores no expuestos respecto del grupo de trabajadores expuestos, en el que sólo el 17% presentó normozoospermia. En la mayoría de los trabajadores expuestos encontramos anormalidad en la viscosidad del semen, en su capacidad de licuefacción, recuento espermático bajo, motilidad espermática disminuida o no observable y una gran cantidad de espermatozoides con alteraciones en su morfología. Algunas de estas características anormales del semen se asociaron con los años de exposición a los hidrocarburos. En el semen de los obreros expuestos a hidrocarburos encontramos una cantidad significativamente mayor de células germinales inmaduras con alteraciones morfológicas nucleares, micronúcleos, en comparación con el grupo de individuos que no tuvieron contacto con estos tóxicos. Además, en el grupo de expuestos se observó que el porcentaje de células germinales inmaduras con micronúcleos tuvo asociación con la edad del individuo y los años de exposición, así como con la morfología espermática. A manera de conclusión, podría decirse que la exposición crónica a hidrocarburos aromáticos potencialmente afecta el proceso de espermatogénesis y se refleja en una mala calidad del semen de los individuos expuestos a estos tóxicos