OBJECTIVE: To analyze a patient with infertility due to complex chromosome rearrangement by optical genome mapping (OGM). METHODS: A female patient who was diagnosed with "primary infertility" at Shenzhen Longhua District Maternal and Child Health Care Hospital in April 2024 was selected as the study subject. Clinical data of the patient was collected. Chromosome G banding karyotyping analysis was carried out for the patient and her parents, in addition with OGM and copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2023052504). RESULTS: The patient, a 33-year-old female, had infertility for the past 5 years. OGM revealed formation of two derivative chromosomes through rearrangement of chromosomes 5 and 18. A loss of heterozygosity on chromosome 5 was also detected by OGM and CNV-seq techniques. Both of her parents had a normal karyotype. CONCLUSION The OGM technique can refine the position of chromosomal breakpoints and determine the direction and position of insertional fragment. Combined with karyotype analysis, the OGM can accurately determine the chromosomal karyotype of the patient and facilitate genetic counseling.
Humans ; Female ; Adult ; Karyotyping ; DNA Copy Number Variations/genetics* ; Chromosome Mapping/methods* ; Chromosome Aberrations ; Infertility, Female/diagnosis*

PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. RESULTS: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was 23.1±7.8 years (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. CONCLUSION: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.
Amenorrhea ; Christianity ; Chromosome Aberrations ; Diagnosis ; Female ; Follicle Stimulating Hormone ; Humans ; Infertility ; Karyotype ; Karyotyping ; Menarche ; Menstruation ; Oligomenorrhea ; Phenotype ; Retrospective Studies ; Sexual Development ; Trisomy ; Turner Syndrome

Endometriosis is a common disease in reproductive aged women, and it detrimentally affects patients' quality of life and fertility. Moreover, because of the complexity of the disease itself, proper effective management is difficult. Within this context, this review proposes the guidelines of the Korean Society of Endometriosis and other world leading societies for endometriosis with an emphasis on: diagnosis of endometriosis, treatment for endometriosis associated pain and infertility, management of asymptomatic women, endometriosis associated malignancy, and endometriosis in postmenopausal women. In recent years, the importance of medical treatment as opposed to surgical removal in the management of endometriosis is gaining popularity. Many guidelines recommend empirical treatment without diagnostic laparoscopy and long term use of medication. This is also closely connected to the social trend of late marriage age and childbirth age. Nevertheless, timely surgical interventions and assisted reproductive procedures are still crucial in the management of endometriosis. Because treatment goals differ in each patient's individual situation, possible treatment options may vary and individualized management is also important. Ultimately, a multimodal approach that is tailored to each individual's therapeutic purpose is of paramount importance in the treatment of endometriosis.
Diagnosis ; Endometriosis ; Female ; Fertility ; Humans ; Infertility ; Laparoscopy ; Marriage ; Parturition ; Quality of Life ; Reproductive Techniques

Endometriosis is a common gynecological condition characterized by chronic pelvic pain, dysmenorrhea and subfertility. However, the pathophysiology of the disease remains unclear and accurate non-invasive diagnostic methods are unavailable. Although clinical symptoms, serum biomarkers, and imaging studies, such as transvaginal ultrasonography and magnetic resonance imaging are useful diagnostic aids, laparoscopy remains the gold standard for the diagnosis of endometriosis. The treatment of endometriosis should be individualized and a multi-disciplinary approach is recommended based on degree of disease-associated symptoms, patient characteristics and preferences, reproductive plans, and desired quality of life. Surgical management is effective for subfertility, chronic pain, and ovarian endometriomas. The principle of surgery is removal of all ectopic endometrial lesions while ensuring that no lesions are missed. Currently, numerous medical treatment options are available to manage endometriosis-associated symptoms; however, all modalities are suppressive rather than curative. Further studies are needed to clarify the exact pathophysiology of endometriosis to enable the development of non-invasive diagnostic tools for early detection and to indicate potential therapeutic targets for this chronic and frustrating disease.
Biomarkers ; Chronic Pain ; Diagnosis ; Dysmenorrhea ; Endometriosis ; Female ; Humans ; Infertility ; Laparoscopy ; Magnetic Resonance Imaging ; Pelvic Pain ; Quality of Life ; Ultrasonography

PURPOSE: To compare reproductive health promoting behaviors (RHPBs) of infertile women with those of normal women and identify effects of RHPB on infertility. METHODS: A total of 148 females (73 infertile women and 75 normal women) were enrolled in this study. Measurements included their general characteristics and RHPB using self-report questionnaires. Data were analyzed with descriptive statistics, χ2 test, ANCOVA, and hierarchical logistic regression using SPSS. RESULTS: There were significant difference in incomes, number of family, number of term deliveries, and number of abortions according to infertility diagnosis. Mean duration of infertility was 32.16 months. Only 12.32% women had known cause of infertility. The most common cause of infertility was unknown. Mean RHPB score was 3.98 for infertile women and 4.41 for normal women. In logistic regression, total RHPB (odds ratio [OR], 0.21) and safe sex of RHPB (OR, 0.66) were significant factors influencing infertility. Infertile women's total RHPB and subcategories of RHPB (safe sex behavior and sexual transmitted disease [STD] prevention) were lower than those of normal women. CONCLUSION: For infertility women, RHPB-related intervention programs are needed, especially information about safe sex behavior and STD prevention.
Diagnosis ; Female ; Health Promotion ; Humans ; Infertility ; Infertility, Female ; Logistic Models ; Reproductive Health ; Safe Sex ; Sexual Behavior

PURPOSE: As the number of infertile couples has grown, many infertile women have experienced depression during the diagnosis and treatment of their infertility. This study aimed to identify the factors related to depression in infertile women who underwent reproductive treatments. METHODS: The study subjects were 149 infertile women who underwent reproductive treatments. The data were collected by self-administered questionnaires from August 1 to December 24, 2018. The questionnaire consisted of questions about fatigue, health-promoting behavior, and depression. Analyses of the descriptive statistics, t-tests, one-way analysis of variance, correlation, and multiple regression were conducted using the SPSS 25.0 Windows program. RESULTS: Thirty-six of the women in the study (24.2%) were in the probably depressed group and 113 (75.8%) were in the definitely depressed group and 100% of the subjects experienced symptoms of depression. Depression was positively correlated with fatigue and negatively correlated with health-promoting behavior. Multiple regression analysis revealed that fatigue and interpersonal relationships were factors significantly related to depression in the model (p<.001), with an explanatory power of 42.6%. CONCLUSION: The results confirmed that fatigue and interpersonal relationships, which is a subfactor of health-promoting behavior, were factors related to depression. To alleviate depression in infertile women, efforts should be made to identify and reduce psychological and physical fatigue. In addition, minimizing relational difficulties that they experience during an infertility diagnosis and treatment and strengthening positive interpersonal relationships can be positive strategies to alleviate depression.
Depression ; Diagnosis ; Family Characteristics ; Fatigue ; Female ; Health Promotion ; Humans ; Infertility

Despite advances in the field of male reproductive health, idiopathic male infertility, in which a man has altered semen characteristics without an identifiable cause and there is no female factor infertility, remains a challenging condition to diagnose and manage. Increasing evidence suggests that oxidative stress (OS) plays an independent role in the etiology of male infertility, with 30% to 80% of infertile men having elevated seminal reactive oxygen species levels. OS can negatively affect fertility via a number of pathways, including interference with capacitation and possible damage to sperm membrane and DNA, which may impair the sperm's potential to fertilize an egg and develop into a healthy embryo. Adequate evaluation of male reproductive potential should therefore include an assessment of sperm OS. We propose the term Male Oxidative Stress Infertility, or MOSI, as a novel descriptor for infertile men with abnormal semen characteristics and OS, including many patients who were previously classified as having idiopathic male infertility. Oxidation-reduction potential (ORP) can be a useful clinical biomarker for the classification of MOSI, as it takes into account the levels of both oxidants and reductants (antioxidants). Current treatment protocols for OS, including the use of antioxidants, are not evidence-based and have the potential for complications and increased healthcare-related expenditures. Utilizing an easy, reproducible, and cost-effective test to measure ORP may provide a more targeted, reliable approach for administering antioxidant therapy while minimizing the risk of antioxidant overdose. With the increasing awareness and understanding of MOSI as a distinct male infertility diagnosis, future research endeavors can facilitate the development of evidence-based treatments that target its underlying cause.
Antioxidants ; Classification ; Clinical Protocols ; Diagnosis ; DNA ; Embryonic Structures ; Female ; Fertility ; Health Expenditures ; Humans ; Infertility ; Infertility, Male ; Male ; Membranes ; Ovum ; Oxidants ; Oxidation-Reduction ; Oxidative Stress ; Reactive Oxygen Species ; Reducing Agents ; Reproductive Health ; Semen ; Spermatozoa ; Subject Headings

Endometriosis is one of the most common diseases in reproductive ages, and it affects patients' quality of life and fertility. However, few Korean guidelines are available for the evaluation and management of endometriosis. Korean Society of Endometriosis reviewed various literatures and trials, and to provide seventy-one evidence-based recommendations. This review presents guidelines for the diagnosis and management of endometriosis with emphasis on: it's role in infertility, treatment of recurrence, asymptomatic women, endometriosis in adolescents and menopausal women, and possible association of endometriosis with cancer.
Adolescent ; Diagnosis ; Dysmenorrhea ; Endometriosis* ; Female ; Fertility ; Humans ; Infertility ; Pelvic Pain ; Quality of Life ; Recurrence

Background: The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization (FISH) and preimplantation genetic diagnosis (PGD) treatment. Methods: This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student's t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher's exact test when expected cell count was <5. Results: The 53 PGD cycles with 433 embryos were analyzed. The fixation rate was 89.6%, while the hybridization rate was 96.4%. There were 283 embryos with two sex chromosomal signals with clear diagnosis (65.4%). The numbers of no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups were 45 (10.4%), 14 (3.2%), 24 (5.5%), and 67 (15.5%), respectively. Embryos with abnormal signals were abandoned. The number of good-quality embryos was 210 (57.4%), including implanted embryos on day 4/day 5 and cryopreserved. The rates of good-quality embryos in the no nuclei fixed (22.2%), no signal in fixed nuclei (28.6%), and suspensive signal groups (33.3%) were comparable (P > 0.05), and were significantly lower than the normal signal group (66.4%, P < 0.001). The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively. Conclusions Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcome s.
Female ; Humans ; In Situ Hybridization, Fluorescence ; Infertility, Male ; genetics ; Male ; Pregnancy ; Preimplantation Diagnosis ; Retrospective Studies ; Sex Chromosome Disorders ; diagnosis ; genetics ; XYY Karyotype ; diagnosis ; genetics

ObjectiveAutosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic renal diseases, which may cause oligoasthenospermia and azoospermia and result in male infertility. This study aimed to analyze the outcomes of preimplantation genetic diagnosis (PGD) in male patients with ADPKD-induced infertility.

METHODSWe retrospectively analyzed the clinical data on 7 male patients with ADPKD-induced infertility undergoing PGD from April 2015 to February 2017, including 6 cases of oligoasthenospermia and 1 case of obstructive azoospermia, all with the PKD1 gene heterozygous mutations. Following intracytoplasmic sperm injection (ICSI), we performed blastomere biopsy after 5 or 6 days of embryo culture and subjected the blastomeres to Sureplex whole-genome amplification, followed by haplotype linkage analysis, Sanger sequencing, array-based comparative genomic hybridization to assess the chromosomal ploidy of the unaffected embryos, and identification of the unaffected euploid embryos for transfer.

RESULTSOne PGD cycle was completed for each of the 7 patients. Totally, 26 blastocysts were developed, of which 12 were unaffected and diploid. Clinical pregnancies were achieved in 6 cases following 7 cycles of frozen embryo transplantation, which included 5 live births and 1 spontaneous abortion.

CONCLUSIONSFor males with ADPKD-induced infertility, PGD may contribute to high rates of clinical pregnancy and live birth and prevent ADPKD in the offspring as well. This finding is also meaningful for the ADPKD patients with normal fertility.

Abortion, Spontaneous ; genetics ; Biopsy ; Blastocyst ; Comparative Genomic Hybridization ; Embryo Transfer ; Female ; Humans ; Infertility, Male ; etiology ; genetics ; Male ; Mutation ; Polycystic Kidney, Autosomal Dominant ; complications ; diagnosis ; genetics ; prevention & control ; Pregnancy ; Pregnancy Outcome ; Preimplantation Diagnosis ; Retrospective Studies ; Sperm Injections, Intracytoplasmic