-
Journal of Obstetrics and Gynaecology :... Oct 2021
Review
Topics: 46, XX Disorders of Sex Development; Amenorrhea; Congenital Abnormalities; Diagnostic Errors; Estrogen Replacement Therapy; Female; Gonadal Dysgenesis, 46,XX; Humans; Mullerian Ducts; Treatment Outcome; Young Adult
PubMed: 33054466
DOI: 10.1080/01443615.2020.1798908 -
The Journal of Obstetrics and... May 2021
Topics: Diagnostic Errors; Estrogens; Female; Gonadal Dysgenesis; Humans; Mullerian Ducts; Turner Syndrome; Uterus
PubMed: 33650295
DOI: 10.1111/jog.14716 -
British Medical Journal Aug 1956
Topics: Congenital Abnormalities; Gonadal Dysgenesis; Gonads; Osteoporosis; Tetany; Turner Syndrome
PubMed: 13342472
DOI: 10.1136/bmj.2.4987.282 -
Journal of Pediatric and Adolescent... Dec 2021
Topics: Gonadal Dysgenesis; Gonadal Dysgenesis, 46,XY; Humans
PubMed: 34742465
DOI: 10.1016/j.jpag.2021.08.008 -
Gynecological Endocrinology : the... Oct 2016The co-occurrence of gonadal agenesis alongside hypoplastic derivatives of the paramesonephric ducts has rarely been observed.
UNLABELLED
The co-occurrence of gonadal agenesis alongside hypoplastic derivatives of the paramesonephric ducts has rarely been observed.
PATIENT(S)
16-year-old dizygotic twin sisters were referred to our department because of primary amenorrhea. X-ray, bone densitometry, ultrasonography, pelvic MRI and measurement of pituitary, ovary, and thyroid hormones were performed. Both twins showed hypergonadotropic hypogonadism, bilateral gonadal agenesis, fallopian tube, uterus, and vaginal hypoplasia but normal kidney and urinary tract structures and skeletal system. Analysis of Q-banded chromosomes in peripheral blood for the search for centromeric X-chromosome DNA and SRY gene was normal as well as the molecular analysis of FMR1, GDF9, and BMP15 genes. Estradiol gel was administered for one year followed by estroprogestin treatment. Both twins growth increased; breast development was stimulated and first menses occurred. Deregulation in the expression of the various HOX genes along the axis of the developing reproductive tract in a determinate time of development may be one of the mechanisms involved in the origin of this complex and rare association.
Topics: Adolescent; Amenorrhea; Female; Gonadal Dysgenesis; Humans; Mullerian Ducts; Twins, Dizygotic
PubMed: 27379817
DOI: 10.1080/09513590.2016.1197199 -
Acta Endocrinologica Sep 1957
Topics: Gonadal Dysgenesis; Gonads; Humans; Turner Syndrome
PubMed: 13469074
DOI: 10.1530/acta.0.0260101 -
Gene Apr 2023Developmental disruption of the Mullerian duct and gonads in females leads to Mullerian agenesis and gonadal dysgenesis, respectively. These two structural abnormalities...
Developmental disruption of the Mullerian duct and gonads in females leads to Mullerian agenesis and gonadal dysgenesis, respectively. These two structural abnormalities are coming under the 46,XX DSD (Disorders of Sexual Development) classification, the majority of cases the aetiology remains elusive. Without the SRY gene, WNT4 plays a key role in female reproductive structure development. Since there are no studies that explored the involvement of the WNT4 gene in Indian 46,XX DSD patients, we analysed the role of WNT4 in Indian 46,XX DSD patients with Mullerian agenesis and/or Gonadal dysgenesis. In our study, we recruited 103 adolescent girls with primary amenorrhea. After the cytogenetic and SRY gene analysis, we included thirty-two 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis for WNT4 gene mutation analysis. PCR sequencing was performed for all the coding exons of the WNT4 gene. Bioinformatic tools like Mutation Taster, Human Splicing Finder, and miRDB were used. We observed single nucleotide variations in three patients. One patient showed a known synonymous polymorphism (c.861C > T; p.G287G, rs544988174). miRDB data revealed the absence of microRNA regulatory sites in this region. The other two cases carried a nucleotide substitution in intronic regions and did not affect the normal splicing mechanism. In conclusion, we could not find any indication about WNT4 involvement in the disease condition. In the future, WNT4 promoter analysis in these patients and molecular characterization of the WNT4 coding and promoter region in more patients are needed to link WNT4 variants with these structural abnormalities.
Topics: Adolescent; Humans; Female; Genes, sry; Mullerian Ducts; Gonadal Dysgenesis; 46, XX Disorders of Sex Development; Turner Syndrome; Mutation; Nucleotides; Wnt4 Protein
PubMed: 36738897
DOI: 10.1016/j.gene.2023.147236 -
Journal of Pediatric Urology Dec 2016Recent studies on gonadal histology have improved the understanding of germ cell malignancy risk in patients with disorders of sex development (DSD), and evidence-based... (Review)
Review
Recent studies on gonadal histology have improved the understanding of germ cell malignancy risk in patients with disorders of sex development (DSD), and evidence-based gonadal management strategies are gradually emerging. Especially in 46,XY DSD and 45,X/46,XY DSD, which are characterized by gonadal dysgenesis, the risk of germ cell malignancy is significantly increased. This paper summarized the progress over the past 10 years in malignancy risk assessment in patients with DSD, and its implications for optimal surgical handling of the involved gonads.
Topics: Child; Decision Trees; Female; Gonadal Dysgenesis; Humans; Male; Urologic Surgical Procedures
PubMed: 27769830
DOI: 10.1016/j.jpurol.2016.08.015 -
The Journal of Obstetrics and... Feb 1959
Topics: Gonadal Dysgenesis; Gonads; Humans; Turner Syndrome
PubMed: 13631545
DOI: 10.1111/j.1471-0528.1959.tb01146.x -
The Journal of Urology Jul 1949
Topics: Gonadal Dysgenesis; Gonadal Dysgenesis, 46,XY; Humans; Male; Testicular Diseases; Testis
PubMed: 18145513
DOI: 10.1016/S0022-5347(17)68888-8