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MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME. LAPAROSCOPIC SIGMOID VAGINOPLASTY FOR THE TREATMENT OF VAGINAL AGENESIS - SINGLE CENTER EXPERIENCE IN GEORGIA. CASE REPORT.
Georgian Med News
September 2024
2Clinic Caraps Medline, Tbilisi, Georgia.
Introduction And Hypothesis: Sigmoid vaginoplasty is a safe and acceptable procedure for vaginal agenesis with good cosmetic results and acceptable complications rate. Sigmoid colon vaginoplasty is the treatment of choice because of its large lumen, thick walls resistant to trauma, adequate secretion allowing lubrication, not necessitating prolonged dilatation, and short recovery time. We investigate the feasibility, safety, and clinical therapeutic effect of laparoscopic sigmoid vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
View Article and Find Full Text PDFIdentification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis.
Reprod Biol Endocrinol
November 2024
National Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, 100730, People's Republic of China.
Background: 46,XX complete gonadal dysgenesis (46,XX-CGD) is a rare disorder of sexual development (DSD) characterized by primary amenorrhea and a lack of spontaneous pubertal development in individuals with a 46,XX karyotype despite the presence of female internal and external genitalia due to failure of bilateral ovarian development. The condition is genetically heterogeneous, and in most cases, its etiology is unknown. Determining the genetic cause would provide insights into potential targets for genetic diagnosis and counseling.
View Article and Find Full Text PDFHypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216.
JCEM Case Rep
November 2024
Department of Endocrinology, University Hospitals Leuven, 3000 Leuven, Belgium.
Article Synopsis
- - A genetic condition known as Gordon Holmes syndrome combines symptoms like hypogonadotropic hypogonadism, cerebellar ataxia, chorea, and cognitive impairment, linked to biallelic pathogenic variants.
- - A case study involves two siblings, a 17-year-old brother with delayed puberty and gynecomastia, and a 15-year-old sister with primary amenorrhea, leading to clinical investigations that revealed reproductive and neurological issues.
- - Whole-exome sequencing confirmed a homozygous pathogenic variant in both siblings, with parents identified as heterozygous carriers, emphasizing that early signs of hypogonadism can indicate this complex neuroendocrine disorder.
Does surgery to preserve fertility in Sertoli-Leydig cell tumours increase the likelihood of spontaneous conception?
BMJ Case Rep
October 2024
Reproductive Medicine & Surgery, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamil Nadu, India.
Article Synopsis
- A woman in her 30s experienced primary infertility and secondary amenorrhoea, with signs of virilisation and a solid mass found on her right ovary, leading to concerns about an ovarian tumor.
- Tests indicated the likely presence of an androgen-producing tumor called a Sertoli-Leydig cell tumour (SLCT), which was confirmed through histopathology after a fertility-sparing surgery.
- Following the surgery, the patient’s testosterone levels dropped significantly, and her menstrual cycle resumed, highlighting the importance of recognizing SLCTs in similar cases and considering fertility-preserving options in young women with such conditions.
Measuring non-events: infertility estimation using cross-sectional, population-based data from four countries in sub-Saharan Africa.
Hum Reprod
December 2024
Department of Family Science, University of Maryland, College Park, MD, USA.
Study Question: Does the prevalence of 12-month infertility in Burkina Faso, Côte d'Ivoire, Kenya, and Uganda differ between women trying to conceive and the broader population of women exposed to unprotected sex, and how are prevalence estimates affected by model assumptions and adjustments?
Summary Answer: Estimates of 12-month infertility among tryers ranged from 8% in Burkina Faso to 30% in Côte d'Ivoire, increasing substantially among a larger population of women exposed to unprotected intercourse.
What Is Known Already: While having a child is a fundamental human experience, the extent to which women and couples experience infertility is a neglected area of research, particularly in sub-Saharan Africa. Existing estimates of infertility in this region vary widely from 2% to 32%, however, potential impacts of variability in study populations and model assumptions have not been well-examined.
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