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46,XY Sex Reversal Type 4

Swyer Syndrome


  • To present cases of Swyer syndrome. Researchers present the clinical, sonographic, endocrine findings, genetic analyses and treatment in two cases of phenotypic females with XY karyotype and gonadal dysgenesis.[medwelljournals.com]
  • The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years. Her history and familial history involved no relevant conditions.[ncbi.nlm.nih.gov]
  • We present a 39 year old lady with 46, XY pure gonadal dysgenesis who had a successful pregnancy through in-vitro fertilization by oocyte donation. At her original presentation in 1984, our patient’s main complaint was primary amenorrhoea.[endocrine-abstracts.org]
  • This is a case study of a patient who presented with primary amenorrhoea and primary infertility. She was a 24-year-old phenotypically female patient with a delayed diagnosis of Swyer syndrome.[ajol.info]
  • Completely undeveloped streak gonads are present and are associated with an increased risk of abdominal tumours (most commonly dysgerminoma; see this term), which may be the presenting feature in some cases.[orpha.net]
Ascitic Fluid
  • Ascitic fluid and omentum were free of malignancy. Karyotyping showed 46, XY genotype (Figure 5 ). She was referred to us but reported only three months later with progressive abdominal symptoms and raised levels of serum (AFP), beta-HCG, and LDH.[cureus.com]
  • There was no evidence of acanthosis nigricans, acne, hirsutism, goiter, cushingoid features or Turners stigmata. Her school performance was good. There was no other case with a history of delayed puberty in the family.[slideshare.net]
  • There was no evidence of acanthosis nigricans, acne, hirsutism, goiter, cushingoid features or Turners stigmata. Her school performance was good. There was no other case with a history of delayed puberty in the family.[slideshare.net]
Pelvic Mass
  • In any patient with a premenarchal pelvic mass, karyotyping should be performed.[cureus.com]
  • Therefore in premenarchal patients with a pelvic mass, the karyotype should be determined. Differential diagnosis for dysgerminoma include diffuse large B cell lymphoma, poorly differentiated carcinoma, embryonal carcinoma and gonadoblastoma.[diagnosticpathology.biomedcentral.com]
  • Three years and three months after the initial diagnosis she felt a growing pelvic mass. Bilateral gonadectomy and total hysterectomy were performed. Histological examination revealed gonadoblastoma and dysgerminoma on both gonads.[lymphedemapeople.com]
  • […] symbols: AD4BP, ELP, FTZ1, FTZF1, SF-1, SF1, hSF-1 ) , SRY (Withdrawn symbols: TDF ) , SOX9 (Withdrawn symbols: CMD1, CMPD1, SRA1 ) , DMRT1 (Withdrawn symbols: CT154, DMT1 ) , NR0B1 (Withdrawn symbols: AHC, AHCH, DAX1, DSS ) , MAP3K1 (Withdrawn symbols[mousephenotype.org]


  • Further, no standard approach or guidelines have been established for the diagnostic workup and management of these patients.[ijpeonline.biomedcentral.com]
Ovarian Mass
  • The pelvic assessment identified the presence of ovarian masses which, in conjunction with the high β-HCG level, suggested a tumoural condition as the diagnosis. β-HCG is a glycoprotein hormone, which, as well as being associated with pregnancy, is considered[analesdepediatria.org]
Lymphocytic Infiltrate


  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.de]
  • At the age of 16 she was evaluated by a gynecologist because of primary amenorrhoea and treatment with oral contraceptive pills was started.[abstracts.eurospe.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]


  • Prognosis With appropriate management, the risk of malignancy is low and the psychological and clinical outcome for patients is good. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • […] gonadal dysgenesis (CGD) / Swyer syndrome mixed gonadal dysgenesis (MGD) pure gonadal dysgenesis (PGD) Associations syndromic associations Turner syndrome ( streak ovaries ) DRASH syndrome other associations Madelung deformity gonadoblastoma Treatment and prognosis[radiopaedia.org]


  • Etiology Although the etiology is not completely understood, 46,XY CGD results from failure of testicular development due to disruption of the underlying genetic pathways and several genes have been implicated: SRY (gene deletion of or loss-of-function[orpha.net]
  • […] review is to present the exiting literature accumulated from 1955 to 1992 pertaining to 46,XY pure gonadal dysgenesis (Swyer-James syndrome), add the findings of a personally observed patient, and highlight the complexties in attempting to determine the etiology[journals.lww.com]
  • […] dysgenesis originally referred to Turner syndrome but it is now applied to other conditions as well Under the new nomenclature, this form of gonadal dysgenesis is considered a type of 46,XY DSD (disorder of sex development) Also called Swyer syndrome Etiology[pathologyoutlines.com]
  • Internal female genitalia, primarily the uterus, may or may not be present depending on the etiology of the disorder. The incidence of neoplasia in patients with gonadal dysgenesis merits mention.[cureus.com]


  • Summary Epidemiology The prevalence is unknown. Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal.[orpha.net]
  • Epidemiology [ edit ] It has been estimated that the incidence of Swyer syndrome is approximately 1 in 100,000 people. [6] Fewer than 100 cases have been reported as of 2018. [6] There are extremely rare instances of familial Swyer syndrome. [6] History[en.wikipedia.org]
Sex distribution
Age distribution


  • Additional chapters examine the pathophysiology of insulin-dependent diabetes mellitus, the molecular genetics of thyroid cancer, the molecular basis of hypophosphatemic rickets, and inherited diabetes insipidus.[books.google.de]
  • […] insensitivity): high-dose androgen therapy Gonadectomy for intra-abdominal testicles typically performed after puberty ( high risk of malignancy ) Psychological support References: [1] Aromatase deficiency Karyotype : 46 XX or 46 XY (normal sex development) Pathophysiology[amboss.com]
  • […] and classification of disorders of sex development To make a diagnosis, it is essential not only to understand normal development but also to understand the different pathophysiological mechanisms responsible for DSDs.[patient.info]
  • Miller The pathophysiology and genetics of congenital lipoid adrenal hyperplasia [34.] O. Hiort, P.M. Holterhus, R. Werner, C. Marschke, U. Hoppe, C.J.[apcontinuada.com]
  • We also discuss the pathophysiological processes and the optimal timing of gonadectomy with the evidence on risk of neoplasia in patients with 46, XY DSD. 1.[ogscience.org]


  • These processes cause a fetus to develop male gonads (testes) and prevent the development of female reproductive structures ( uterus and fallopian tubes ).[ghr.nlm.nih.gov]
  • For this reason, molecular diagnosis of 46,XY CGD is needed to allow the orientation of the clinical supervision to prevent gonadal malignancy by removing the dysgenetic gonads.[omicsonline.org]
  • Once the diagnosis of 46,XY complete gonadal dysgenesis is established, early laparoscopic removal of the dysgenetic gonads is crucial to prevent the development of gonadal malignancy.[degruyter.com]
  • Both affect the process of sexual differentiation and prevent affected foetuses from developing testes, and resulting in the growth of the default uterus and fallopian tubes.[allthingsvagina.com]
  • Prevention of coronary heart disease and osteoporosis is an additional benefit of estrogen therapy [ 8 ].[ogscience.org]

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