Artificial Donor Insemination Research Articles

Serum lipocalin-like protein in Sebastes rockfish: A novel biomarker for reproductive stage males

Viviparous rockfishes (Sebastes spp.) are ecologically and economically important fisheries and aquaculture species. Because the males lack obvious morphological characteristics related to reproductive status, it is challenging to select semen donors for artificial insemination. We previously identified lipocalin-type prostaglandin D2 synthase homolog protein (LPGDShp) in the urine of male black rockfish (Sebastes schlegelii). Subsequently, LPGDShp-like protein (hereafter, lipocalin-like protein) was immunologically detected in the serum of two Sebastes species, black rockfish and white-edged rockfish (S. taczanowskii). In the present study, an enzyme-linked immunosorbent assay (ELISA) was developed to explore the potential of serum lipocalin-like protein as a biomarker for selecting mature males. The ELISA measured lipocalin-like protein in the sera of black rockfish and white-edged rockfish over an assay range between 0.391 and 12.5 ng/mL. In male black rockfish, serum levels of lipocalin-like protein were higher during the copulation season, and they were higher than levels in females during both the copulation and non-copulation seasons. In male white-edged rockfish sampled nearly monthly for a year, serum lipocalin-like protein levels showed synchronous dynamics with gonadosomatic index (GSI). Histological examination of testis revealed that the serum levels were elevated in the late/functional maturation stages, as compared to early/mid-maturation and resting stages. In both rockfish species, while serum levels of lipocalin-like protein were positively correlated with GSI in males, no such trend was observed in females. These results indicate, for the first time, that serum lipocalin-like protein can be employed as a hematological biomarker to detect the reproductive status of male rockfishes.

Comparison of Clinical Outcomes, Risks, and Costs for 20,910 Donor In Vitro Fertilization and 16,850 Donor Artificial Insemination Treatment Cycles: A Retrospective Analysis in China.

To evaluate the effectiveness of donor in vitro fertilization (IVF-D) and donor artificial insemination (AI-D) in clinical outcomes, risks, and costs. This study analyzed the cycle changes and clinical outcomes in 20,910 IVF-D and 16,850 AI-D cycles between 2013 and 2021 in the Reproductive and Genetic Hospital of CITIC-Xiangya. A cost-effectiveness analysis was performed to evaluate the costs per couple and per live birth cycle in the two treatment groups. IVF-D had higher pregnancy and live birth rates than AI-D (p < 0.001). The cumulative pregnancy and live birth rates for three AI-D cycles were 41.01% and 32.42%, respectively, higher than the rates for one or two AI-D cycles. The multiple birth and birth defect rate of AI-D was lower than that of IVF-D significantly. IVF-D mean cost per couple was higher than that of AI-D (CNY32,575 vs. CNY11,062, p < 0.001), with a mean cost difference of CNY21,513 (95% confidence interval, CNY20,517-22,508). The mean costs per live birth cycle for IVF-D and AI-D were CNY49,411 and CNY31,246, respectively. AI-D is more cost-effective and poses a lower risk for infertility couples than IVF-D, and patients should undergo three AI-D cycles to obtain the highest success rate.

Birthweight leads to seminal and testicular morphofunctional commitment in sexually mature boars

Given the importance of males as semen donors for artificial insemination (AI) and the high incidence of low birthweight piglets at commercial farms, the impact of birthweight on fertility in boars deserves special attention. The aim of this study was to evaluate testicular morphofunctional parameters and semen characteristics in different birthweight boars. Forty littermate males were selected at birth and divided into two experimental groups, according to birthweight: high (HW, birthweight ranging from 1.80 to 2.15 kg, n = 20) and low (LW, birthweight ranging from 0.75 to 1.10 kg, n = 20). At 170 days of age, a sub-set of 24 littermate boars (n = 12 HW and n = 12 LW) were randomly selected for semen collection, which was performed once a week, at a 15-day interval, during five weeks. At 300 days of age, boars were orchiectomized, and the testis processed for histological and molecular analyses. The HW group was heavier and presented larger testes compared to LW animals (P < 0.05). Despite that, birthweight did not significantly affect semen volume or sperm quality parameters (concentration, motility, vigor or morphology), although LW boars produced 38.2% fewer total sperm and 24% lower semen concentration, leading to 36.8% less inseminating doses. The histomorphometrical evaluation showed that seminiferous tubules diameter and germinal epithelium height were similar between experimental groups. However, LW boars presented shorter seminiferous tubules and, consequently, fewer Sertoli cells per testis (P 0.05). Even though plasma testosterone levels were equivalent in both birthweight groups, LW testis presented less androgen receptors (P < 0.05). Additionally, birthweight was positively correlated with total seminiferous tubule length and number of Sertoli cells (P < 0.01), and with body and testis weights (P < 0.01). Taken together, even though adult LW boars showed no evident semen pathologies or spermatogenesis commitment, mature HW males have the potential to produce more spermatozoa, consequently more semen doses per ejaculate, being more valuable to an industry that relies on AI.

Resultados de inseminación artificial (conyugales y de donante) del Registro Nacional de Actividad – Registro de la Sociedad Española de Fertilidad en los años 2018 y 2019

Introduction. Artificial insemination is a widely used assisted reproduction technique, despite controversy over its usefulness. This document presents the data from the National Register of Activity in Assisted Human Reproduction (RNA – Register SEF), for Artificial Insemination during 2018 and 2019.Material and methods. The data for conjugal and donor artificial insemination (AI-C and AI-D respectively) collected by the RNA – Register SEF during 2018 and 2019 was analysed and compared with data obtained in previous years. Participation was mandatory for Spanish assisted reproduction centres and annual aggregate data was collected by centre and in situ monitoring carried out at random on data provided by more than 15% of participating centres. A total of 34,100 cycles were analysed in 2018 (21,467 AI-C cycles and 12,633 AI-D cycles) and 32,548 cycles in 2019 (18,948 AI-C and 13,564 AI-D cycles).Results. No significant differences were observed in the overall gestation rate per cycle, either for AI-C (2018: 13.1%; 2019: 12.8%) or for AI-D (2018: 19.0%; 2019: 18.8%). In 2018, 11.6% of the pregnancies obtained through AI-C were multiple pregnancies. Similar figures of 9.9% were obtained in 2019. Similar results have been observed in AI-D, where the multiple gestation rate was 10.7% in 2018 and 8.9% in 2019. In pregnancies obtained with AI-C, 17.8% resulted in miscarriage in 2018 and 16.3% in 2019. With the donor technique, 18.0% resulted in miscarriage in 2018 and 18.0% in 2019.Conclusions. Despite a slight increase in the number of participating centres, a decrease is observed in the use of AI-C, but this trend does not occur with AI-D.

Resultados de inseminación artificial (conyugales y de donante) del Registro Nacional de Actividad – Registro de la Sociedad Española de Fertilidad. Años 2016 y 2017

IntroductionThe data from the National Register of Activity in Assisted Human Reproduction (RNA – Register SEF), for artificial insemination during 2016 and 2017 are presented. Material and methodsThe data for conjugal and donor artificial insemination (AI-C and AI-D respectively) collected by the RNA – Register SEF during 2016 and 2017 were analysed and compared with data obtained in previous years. Participation was mandatory for Spanish assisted reproduction centres and annual aggregate data was collected by centre and in situ monitoring was carried out at random on data provided by more than 15% of the participating centres. A total of 36,463 cycles were analysed in 2016 (24,130 AI-C cycles and 12,333 AI-D cycles) and 34,964 cycles in 2017 (22,199 AI-C and 12,765 AI-D cycles). ResultsNo significant differences were observed in the overall gestation rate per cycle, either for AI-C (2016: 13.0%; 2017: 12.6%) or for AI-D (2016: 20.4%; 2017: 19.6%). In 2016, 10.4% of the pregnancies obtained through AI-C were multiple pregnancies. Similar figures (10.7%) were obtained in 2017. Similar results were observed in AI-D, where the multiple gestation rate was 11.8% in 2016 and 9.9% in 2017. In pregnancies obtained with AI-C, 18.5% resulted in miscarriage in 2016, and 18.9% in 2017. With the donor technique, 17.2% resulted in miscarriage in 2016 and 17.7% in 2017. ConclusionsDespite a slight increase in the number of participating centres, a decrease is observed in the use of AI-C, but this trend does not occur with AI-D.

Advanced maternal age: ethical and medical considerations for assisted reproductive technology.

ObjectivesThis review explores the ethical and medical challenges faced by women of advanced maternal age who decide to have children. Assisted reproductive technologies (ARTs) make post-menopausal pregnancy physiologically plausible, however, one must consider the associated physical, psychological, and sociological factors involved.MethodsA quasi-systematic review was conducted in PubMed and Ovid using the key terms post-menopause, pregnancy + MeSH terms [donations, hormone replacement therapy, assisted reproductive technologies, embryo donation, donor artificial insemination, cryopreservation]. Overall, 28 papers encompassing two major themes (ethical and medical) were included in the review.ConclusionThere are significant ethical considerations and medical (maternal and fetal) complications related to pregnancy in peri- and post-menopausal women. When examining the ethical and sociological perspective, the literature portrays an overall positive attitude toward pregnancy in advanced maternal age. With respect to the medical complications, the general consensus in the evaluated studies suggests that there is greater risk of complication for spontaneous pregnancy when the mother is older (eg, >35 years old). This risk can be mitigated by careful medical screening of the mother and the use of ARTs in healthy women. In these instances, a woman of advanced maternal age who is otherwise healthy can carry a pregnancy with a similar risk profile to that of her younger counterparts when using donated oocytes.

Single versus double intrauterine insemination—in artificial insemination donor stimulated cycles—impact on the clinical pregnancy rate: A randomized trial

Introduction: Male factor infertility affects almost 30–50% of infertile couples worldwide. The use of donor sperm intrauterine insemination (IUI) is an option for couples with absolute azoospermia, severe male factor infertility, sexual dysfunction and unaffordability for in-vitro fertilization. The data on the utility of double IUI using donor sperm are limited due to the lack of randomized controlled trial’s and conflicting conclusions. The objective of this study was to evaluate the utility of frozen double donor sperm IUI to improve clinical pregnancy rate. Materials and Methods: A total of 200 participants that fulfilled the inclusion criteria were enrolled for the study following randomization after preliminary work up. Random distribution was made using sequentially numbered envelope method in both groups (single and double IUI). Results: In this dataset comparing single and double donor sperm IUI, there was no significant difference in clinical pregnancy rates. The clinical pregnancy of 11 participants (11%) (out of 100 participants) in single IUI group and 13 participants (13%) (out of 100 participants) in double IUI group was seen. Conclusion: However, clinical pregnancy rate was statistically significant with gonadotrophins in double IUI group in our study.

Testicular function in a birth cohort of young men.

Testicular function in a birth cohort of young men.

The Usefulness of Captive Kept Capercaillie (Tetrao urogallus L.) as the Semen Donors for Artificial Insemination and Gene Pool Preservation In vitro.

Captive breeding of birds threatened by extinction in zoological gardens or other closed aviary centres is one of the methods allowing their protection and gene pool preservation ex situ in vivo. Such birds are usually kept in captivity lifelong and serve as parents of several new generations that can be further released into natural environment, or males are used as semen donors for artificial insemination and gene banking. Therefore, the fecundity of such flocks (number of laid egg and spermatozoa quantity and quality) is very important. The aim of this study was to evaluate the usefulness of captive kept capercaillie (Tetrao urogallus L.) as semen donors in three subsequent reproductive seasons, based on the assessment of manually collected semen quality. Male response to dorso-abdominal massage, ejaculate volume, sperm concentration, motility and morphology were evaluated individually at three succeeding years. Depending on individual male properties and year of collection, the number of positive reactions to semen collection attempts (i.e. ending with ejaculation) varied from 44.4% to 100.0%; single ejaculate volume ranged from 10 to 300μl, spermatozoa concentration from 10×10(6) per ml to 3520×10(6) per ml and percentage of live morphologically normal spermatozoa from 19.3 to 80.3%. The highest average value (66.7) of semen quality factor (SQF) was noted for a 2-year-old male (varying from 1.9 to 258.1), while the lowest for ten- (4.8; varying from 0.1 to 17.0) and 7-year-old (6.6; varying between 0.6 and 13.6). Assuming that for AI purposes, the ejaculate quality has to be at minimum 10 SQF, obtained results indicate that majority of capercaillie kept in captivity, both young (2-3 years old) and older (up to 10years old), can be valuable semen producers in succeeding seasons.

Anonymization of Sperm Donors for Artificial Insemination: An International Data Protection Law Perspective

Donor insemination is regulated by law in most countries. Data protection laws also apply in relation to the data that clinics keep in their records on donor-conceived persons. Until very recently, laws and practices favored secrecy of the donor insemination procedures, so that the donor-conceived children would be considered as the natural offsprings of the couple who raised them irrespective of the secret insemination. Later, practices and laws have begun to support openness of the procedure globally, even if this resulted in a well-documented decrease of the donor pool. The openness of the procedure allows a donor-conceived person to apply for and receive data from the medical record if she learns of her status. The argument from the data protection perspective is, whether it could be considered that, the applicant in this case, the child, could be seen as requiring access to her biological father's and her own personal data. It has been held in Iceland by the Supreme Court that in a similar case, with a deceased father, the daughter was asking for the deletion of his personal data as her own, as well as her father's, due to the consanguinity. We need more information from science to decide whether this data is only a negligible part of some biological material, half of a whole future self or something in the middle of these two extremes.

Acceptability of artificial donor insemination among infertile couples in Enugu, southeastern Nigeria

BackgroundMale factor infertility presents one of the greatest challenges with respect to infertility treatment in Africa. Artificial insemination by donor semen (AID) is a cost-effective option for infertile couples, but its practice may be influenced by sociocultural considerations. The purpose of this study was to determine the awareness and acceptability of AID among infertile couples in Enugu, southeastern Nigeria, and identify the sociocultural factors associated with its practices.MethodsQuestionnaires were administered to a cross-section of 200 consecutive infertile couples accessing care at the infertility clinics of two tertiary health institutions in Enugu, Nigeria, between April 1, 2012 and January 31, 2013.ResultsAmong the 384 respondents, the level of awareness and acceptability of AID were 46.6% (179/384) and 43% (77/179), respectively. The acceptability rate was significantly higher among female respondents, women with primary infertility, and those whose infertility had lasted for 5 years and beyond (P<0.05). The major reasons for nonacceptance of AID were religious conviction (34.7%, n=33), cultural concern (17.9%, n=17), fear of contracting an infection (17.9%, n=17), and fear of possibility of failure of the procedure (12.6%, n=12).ConclusionHealth education and public enlightenment are advocated to increase awareness and dispel the current misconceptions about AID in our environment.

Roots, origins and backgrounds: An analysis of their meanings in the creation of adoptive families in Sweden

In international conventions as well as in the national discourses of many countries, children who do not grow up with their biogenetic parents have the right to receive information about their origin. The meaning of origin in intercountry adoption, however, is not necessarily the same as in artificial donor insemination (AID). Through an analysis of the material published by the Swedish Intercountry Adoption Authority from 1972 to 2004 and by discussing the often-drawn analogy between adoption and AID, the present article aims to investigate the varying meanings that have been ascribed to origin and the arguments that have been used in support of its importance.

Fertility in women with minimal endometriosis compared with normal women was assessed by means of a donor insemination program in unstimulated cycles

The purpose of this study was to compare the pregnancy rate in an artificial insemination donor program in women with minimal endometriosis and in women without endometriosis. A prospective double-blinded study was conducted in women with azoospermic partners. The per-cycle pregnancy rate was 8.6% (9/104 women) in the minimal endometriosis group vs 13.3% (26/196 women) in the control group. The per-woman pregnancy rate was 37.5% (9/24 women) in the minimal endometriosis group and 51.0% (26/51 women) in the control group. Pregnancy rates were statistically similar in normal women and in women with minimal endometriosis.

Psychological support for fathers of artificial insemination donor children

Sir, Artificial insemination donor (AID) is pursued by infertile couples after less investigative procedures have been exhausted. Although the female goes through the stress of pregnancy and delivery of the child, the procedure is equally stressful for the male.[1] A 29-year-old married male came along with his 31-year-old wife and their healthy 14-month-old AID female baby. They had tried for a child by natural means for 5 years but were unsuccessful so they tried IVF (in vitro fertilization) which failed and they had also considered adoption. Finally, they went in for AID, as the male was detected to have a low sperm count. The wife complained that since the last 3 months, her husband had become worried about the AID child, had lost all interest in sexual activity and had neglected her emotionally. He was irritable and had outbursts of anger. She finally separated from him and they were contemplating a divorce. On mental status examination, he was depressed and had no suicidal ideas or psychotic symptoms. He admitted that he had lost his sex drive and had erectile problems during sexual activity with his wife. He was worried about the safety of his AID child. He experienced financial stress due to the loan repayment that he took for the IVF and AID treatments. He felt guilty because he was the cause of their infertility due to his low sperm count. He also painfully disclosed that his manhood was hurt as the child was conceived through artificial insemination by an unknown male donor. He complained that no one cared to ask him about his problems. He had no past or family history of any psychiatric disorder. Successfully treated AID couples show several distinct stages: the couple wanting a child while the woman cannot become pregnant; the investigation of the couple’s sterility; the announcement that the husband is sterile; a period during which the couple adapt to this situation; the disappearance of the feeling of guilt, both of the husband, wounded in his “virility,” and of the wife, ashamed of her desire for a child; acceptance of the idea of AID; request for AID, uneasiness at the beginning of pregnancy; euphoric continuation of pregnancy; uncomplicated delivery of a child whose father is very involved in its upbringing, and then request for a second child by AID.[2] Infertile couples prefer AID rather than adoption, because for the woman this alternative offers the chance of “real parenthood.”[3] In India, secrecy about AID is born out of a need to conceal a “public and visible” violation of a culturally priced ideal that views an intimate connection between the “married body” and the progeny. The sperm donor is like an “invisible man.”[4] AID can be hidden under a conspiracy of silence but not adoption.[5] A successful AID pregnancy is a long answered cry of AID parents for a child. The female, as she bears the pregnancy, receives psychological support, whereas the male is at times neglected. This AID father described above is an example of such a situation in which he developed a moderate depressive episode (ICD10 F32.1) after the birth of his AID child, with stress leading to separation and impending divorce. AID treatment is a great boon to infertile couples. Fathers of AID children should also receive psychological support.

Incidence Of Sexually Transmitted Diseases Amongst Potential Semen Donors In University Of Benin Teaching Hospital, Benin City, Nigeria

The incidence of Sexually Transmitted Diseases in Prospective Semen Donors where investigated using Standard Laboratory Procedures. 30 Prospective Semen Donors were screened for common STDs/STI at the Human Reproductive Research Programme /Invitro Fertilization Centre of the University of Benin Teaching Hospital. The incidence rates are Staphylococcus aureus (20%), followed by Chlamydia trachomatis (6.7%) while Klebsiellia spp, Treponema pallidum, Human Immunodeficiency Virus (HIV), Escherichia coli and Hepatitis B Virus were detected with incidence rate of 3.3% each respectively. Ten percent (10%) of the prospective semen donors had evidence of polymicrobial infection excluding HIV. The risk of sexually transmitted diseases or infection should be of great concern to couples undergoing therapeutic artificial donor insemination. Keywords: STDs/STI, Artificial Insemination, Semen Donors)

Cadmium Concentrations in Blood and Seminal Plasma: Correlations with Sperm Number and Motility in Three Male Populations (Infertility Patients, Artificial Insemination Donors, and Unselected Volunteers)

To investigate a possible common environmental exposure that may partially explain the observed decrease in human semen quality, we correlated seminal plasma and blood cadmium levels with sperm concentration and sperm motility. We studied three separate human populations: group 1, infertility patients (Long Island, NY, USA); group 2, artificial insemination donors (AID) (Rochester, NY, USA); and group 3, general population volunteers (Rochester, NY, USA). Information about confounding factors was collected by questionnaire. Seminal plasma cadmium did not correlate with blood cadmium (Spearman correlation, n = 91, r = -0.092, P = 0.386, NS). Both blood and seminal plasma cadmium were significantly higher among infertility patients than the other subjects studied (for example, median seminal plasma cadmium was 0.282 microg/L in infertility patients versus 0.091 microg/L in AID and 0.092 microg/L in general population volunteers; Kruskal-Wallis test, P < 0.001). The percentage of motile sperm and sperm concentration correlated inversely with seminal plasma cadmium among the infertility patients (r = -0.201, P < 0.036 and r = -0.189, P < 0.05, respectively), but not in the other two groups. Age (among infertility patients) was the only positive confounder correlating with seminal plasma cadmium. To validate our human findings in an animal model, we chronically exposed adolescent male Wistar rats to low-moderate cadmium in drinking water. Though otherwise healthy, the rats exhibited decreases in epididymal sperm count and sperm motility associated with cadmium dose and time of exposure. Our human and rat study results are consistent with the hypothesis that environmental cadmium exposures may contribute significantly to reduced human male sperm concentration and sperm motility.

BOVINE EMBRYO SEXING USING THE FLUORESCENCE IN SITU HYBRIDIZATION (FISH)

The purpose of this study was to elaborate a Y-chromosome specific DNA probe that can be used in order to efficiently sex the bovine embryos using biopsied blastomeres. Another objective was to evaluate the pregnancy rate in recipient cows in which the biopsied and sexed embryos were transferred. A number of 76 bovine embryos have been non-surgically collected from a batch of 8 Simmental donor cows, following superovulation and artificial insemination. The embryos have been morphologically evaluated and biopsy has been performed in order to collect a small number of blastomeres from the inner cell mass. After the biopsy, the embryos have been immediately transferred to recipient cows, whose estrous cycle had previously been synchronized with the donor cows. The biopsied blastomeres were treated with 1 µg/ml vinblastine sulphate for 6 hours in order to induce the chromosomal metaphases, fixed on a slide using methanol and acetic acid and then kept in the freezer until use. The DNA probe has been synthesized as follows: the sequence of the Y-chromosome specific BtY2 gene has been used in order to obtain male specific primers; the primers were used in order to amplify a male specific DNA sequence obtained from a bull’s blood; after amplification and electrophoresis the specific bands were cut and DNA has been extracted from the gel; the male specific probe has subsequently been biotinylated by nick translation. Using this probe FISH has been performed and fluorescent signal has been amplified using the tyramide signal amplification kit. Slides have been examined using a fluorescence microscope (the presence of fluorescence signifying a male embryo while its absence a female embryo). The pregnancy rate has been evaluated by rectal palpation, 60 days after the transfer of biopsied embryos and was of 51.3%, while the accuracy of embryo sexing was evaluated at birth, when the FISH predicted sex has been compared with the morphological sex of the offspring and was of 92%. In conclusion, the fluorescence in situ hybridization method of embryo sexing turned out to be quite difficult but yielded good results and can be used for bovine embryo sexing.

Results of genetic screening of donors for artificial insemination.

Only 47 of 61 (77%) medical students were selected as sperm donors for artificial insemination. Fourteen were excluded because of family history 1, eye disorders 7, oligospermia 5, permanent structural chromosome aberration 1.

PCOS in lesbian and heterosexual women treated with artificial donor insemination

It has been claimed that the prevalence of polycystic ovary syndrome (PCOS) is significantly higher in lesbian compared with heterosexual women. The present study tried to corroborate this finding in a population of lesbian and heterosexual women consulting for artificial insemination with donor spermatozoa (AID) in the authors' infertility centre. Separate Rotterdam criteria were compared, as well as the outcome of AID. Data were collected from patient files and 174 lesbian and 200 heterosexual women were included in this study. The diagnosis of PCOS was made following the Rotterdam PCOS consensus workshop group. A total of 8.0% of the lesbian women had PCOS compared with 8.7% of the heterosexual women. Concerning the presence of polycystic ovaries and cycle length and regularity, no significant differences were found. Conclusions about hirsutism and chemical hyperandrogenism were not made. Statistical analysis did not show any difference for the type and outcome of treatment. This study does not confirm a link between sexual orientation and the diagnosis of PCOS. The absence of a significant difference in therapy type and outcome emphasizes that there is no difference in (in)fertility rates between the study groups.

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex‐linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

We present a so far unrecognized X-linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed cerebellar vermis hypoplasia and ventriculomegaly. A tentative diagnosis of JBS was made, and autosomal recessive inheritance considered most likely. In a subsequent pregnancy that occurred after artificial donor insemination, ultrasound in the 22nd week revealed a Dandy-Walker malformation and hydrocephaly. At autopsy at 34 weeks of gestation, the male infant showed cerebellar vermis aplasia and abnormalities of the brainstem and cerebral cortex. He was considered to have the same disorder as his two half-brothers. This renders the pedigree highly suggestive of X-linked inheritance. The clinical symptoms of this syndrome resemble JBS. However, the absence of the molar tooth sign and the X-linked inheritance do not support JBS. We propose the name X-linked cerebral-cerebellar-coloboma syndrome to distinguish the two disorders. Differentiation of the two disorders is especially important in genetic counseling, where artificial donor insemination may be considered as a means of reducing the recurrence risk, or when female relatives of the patient are concerned.