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Gonadal Dysgenesis 

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  1. 24-02-2024 | Gonadal Dysgenesis | Report

    SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis

    In differences/disorders of sex development (DSD), chromosomal, gonadal and/or phenotypic sex is atypical [ 1 ]. These conditions can result from a pathogenic variant in one of several human genes [ 2 – 5 ]. Many of these genes encode components of …

  2. 04-05-2023 | Ultrasound | OriginalPaper

    New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment

    Hereditary neuropathies encompass a heterogeneous group of genetic diseases that includes conditions predominantly involving peripheral nerves and also complex systemic disorders in which peripheral nerve involvement is one of the characteristics.

  3. Open Access 01-12-2021 | Seminoma | OriginalPaper

    Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report

    Mixed gonadal dysgenesis (MGD) is a subtype of the disorders of sex development (DSD) associated with sex chromosome abnormalities. The incidence of this rare disease is less than 1 per 15,000 births [ 1 ]. The most common form of the disease is a …

  4. 01-08-2021 | Orchidopexy

    Clinical and Reproductive Characteristics of Patients with Mixed Gonadal Dysgenesis (45,X/46, XY)

    Mixed gonadal dysgenesis (MGD) (45,X/46,XY) has an incidence rate of 1.0 per 10,000 [ 1 ]. Mixed gonadal dysgenesis is a chromosomal disorder of sexual differentiation. The most common karyotype reported is mosaicism 45, X/46, XY. Other rare …

  5. Open Access 01-12-2021 | Seminoma | OriginalPaper

    Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review

    Sex development is a highly precise process and is regulated by many factors. Genetic factors, hormone levels and changes in the external environment may cause disorders of sex development (DSDs) [ 1 ]. DSDs can be classified as (1) sex …

  6. Open Access 01-12-2022 | Infertility | OriginalPaper

    Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report

    With routine availability of non-invasive prenatal testing (NIPT), the rate of prenatally diagnosed disorders of sex development (DSDs) has multiplied owing to sex discordance between fetal chromosome and ultrasound analyses. DSDs are a …

  7. 01-09-2019 | Gonadal Dysgenesis | BriefCommunication

    46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

    Primary amenorrhea due to 46,XY disorders of sex development (DSD) is complicated by the involvement of several genes [ 1 ]. Male gonads are recognized in the majority of 46,XY DSD patients, but in some of them, no gonadal tissue is formed.

  8. Open Access 24-02-2022 | Nephroblastoma | OriginalPaper

    WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review

    The Wilms tumor suppressor gene ( WT1 , OMIM 607,102) encodes a zinc finger transcription factor involved in early kidney and urogenital development, which is inactivated in patients with pediatric kidney cancer. Functional WT1 protein is required …

  9. 01-03-2020 | Electroencephalography | OriginalPaper

    Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

    The PAX6 gene (gene ID: 5080, OMIM 607108), located on chromosome 11p13, encodes a highly conserved transcriptional factor that plays a crucial role in embryonic development and neurogenesis and oculogenesis [ 1 ]. Mutations in PAX6 lead to a …

  10. 01-11-2003 | OriginalPaper

    A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis

    The sex-determining region of the Y chromosome (SRY) gene initiates the process of male sex differentiation in mammalians. In humans, mutations in the SRY gene have been reported to account for 10-15% of the XY sex reversal cases. In this report …

  11. 01-01-2015 | OriginalPaper

    Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient

    BACKGROUND: Mixed gonadal dysgenesis (MGD) is a rare disorder. Short stature is a well known feature of this condition. Although growth hormone (GH) treatment has been suggested to treat growth impairment, conflicting data surround this issue.

  12. Open Access 01-12-2015 | OriginalPaper

    Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis

    Gonadal dysgenesis (GD), a condition with interrupted gonadal development leading to gonadal dysfunction, is a subset of disorders of sexual differentiation (DSD). Dysgenetic gonads are characterized by varying degrees of immaturity or dysfunction …

  13. 01-03-2000 | OriginalPaper

    Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis

    A 45,X/46,Xidic(Y)(q11.2) mosaicism was found in a 4-year-old boy. The clinical appearance was characterized by bilateral cryptorchidism, penoscrotal hypospadias, short penis, and coarctation of the aorta. The latter is the only abnormality also …

  14. 01-11-1999 | OriginalPaper

    46,XY gonadal dysgenesis associated with congenital nephrotic syndrome and sepsis

    The occurrence of nephrosis in the first 3 months of life is rare and is termed ’congenital nephrotic syndrome.’ The congenital nephrotic syndrome is a group of heterogeneous diseases with a clinical course that differs markedly from the childhood …

  15. 01-12-2012 | Report

    Mayer–Rokitansky–Kuster–Hauser Type-B Anomaly with MURCS Association and Gonadal Dysgenesis

    The Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome affects 1 out of 4,500 women [ 1 ]. It is a malformation of the female genitals due to interrupted embryonic development of the mullerian (paramesonephric) ducts in otherwise chromosomally …

  16. 01-01-2003 | OriginalPaper

    Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome

    We report on five individuals with the following consistent findings: alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia persisting beyond infancy. The clinical presentation of the XY gonadal dysgenesis was ambiguous …

  17. 01-08-1999 | OriginalPaper

    Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis

    A patient with mixed gonadal dysgenesis showed glove and stocking-type sensory impairment and slowing of motor and sensory nerve conduction. Sural nerve biopsy revealed minifascicular formation with decreased density of myelinated fibers. As far …

  18. Open Access 01-12-2014 | OriginalPaper

    State of the art review in gonadal dysgenesis: challenges in diagnosis and management

    Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized …

  19. 01-10-2005 | OriginalPaper

    Ectopically located gonads in a patient with mixed gonadal dysgenesis: detection by diffusion-weighted MRI

    We report a case of mixed gonadal dysgenesis in which diffusion-weighted magnetic resonance imaging played a major role in the detection of ectopically located gonads. Magnetic resonance imaging may have a potential in detecting ectopically …

  20. Open Access 01-12-2011 | OriginalPaper

    Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report

    Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal …

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