Affected individuals may have a family history of genetic sexual conditions or infertility. A prenatal history may also reveal maternal increased exposure to androgens. On physical examination findings may be ambiguous or seemingly normal genitalia [1]. Gonads may or may not be palpable. Gonadal dysgenesis (GD) may result in genitalia that is discordant with the genotype, in addition to the presence of streak gonads. Presentation of GD may occur during childhood, adolescence, or at an even later stage, with complaints such as amenorrhea, lack of pubertal development, and infertility.

One type of GD entails disorders that are genetic and are perpetuated by abnormal chromosomes, examples of which are Turner's syndrome and Klinefelter syndrome [2]. These can have variable karyotypes.

Disorders of sex development can either be 46,XX or 46,XY. They take place due to a disruption in the pathways necessary for gonadal and urogenital development. In 46,XY disorders, patients are genotypically male but may have ambiguous genitalia (seen in partial GD) or completely female genitalia (seen in complete GD).

Presentation of those with 46,XX may be that of a phenotypic male, or they may have normal female genitalia but in both cases lack functional ovaries [3]. They may present with primary amenorrhea. Moreover, concomitant renal and lung dysfunction may be found. Anomalies in sexual development arise due to errors in the expression of certain genes, such as R-spondin-1 (RSPO1) or sex-determining region Y (SRY), which may predispose patients to other conditions such as squamous cell carcinoma or excess androgens in utero.

The most commonly reported form of GD is congenital adrenal hypoplasia (CAH) and is often seen after overexposure to external androgens prenatally.

• Developmental Disorder

  […] testis or ovary (usually is a testis) and the other gonad is a streak Streak testis: streak tissue identified at periphery of differentiated testis Streak gonad: ovarian type stroma without differentiated gonadal structures Etiology Reproductive system developmental [pathologyoutlines.com]

  Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female. [en.wikipedia.org]

• Failure to Thrive

  Failure to thrive due to various endocrine abnormalities such as Hashimoto’s thyroiditis [ 5 ], adrenal gland dysfunction [ 6 ], primary gonadal failure, ovarian failure and pituitary abnormalities have been reported in association with AT. [casereports.in]

• No Pubic Hair

  The elder two sisters had a normal female phenotype and the youngest had amenorrhea with no breast development (B1) and pubic hair. In addition, it seems that the absence of pubic hair occurred due to delayed constitutional puberty. [advbiores.net]

  Secondary sexual characteristics assessment showed axillary hair stage 5, breast stage 4 and pubic hair stage 5 (Tanner staging). Chromosomal analysis showed a 46XX karyotype. Skeletal X-ray showed small iliac wings and narrow sciatic notches. [ncbi.nlm.nih.gov]

  Breast development is delayed, but axillary and pubic hair is developed. Since less than 5% cases have a sibling with that condition, early suspicion and karyotyping is not possible. So the diagnosis may be delayed. [jpgo.org]

• Pterygium Colli

  The clinical phenotype is highly variable and includes short stature, gonadal dysgenesis, pterygium colli, cubitus valgus and low hairline. [elsevier.es]

• Amenorrhea

  These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration. [profiles.umassmed.edu]

  The authors present a case of a 17-year-old woman with primary amenorrhea and poor breast development. They conducted a laparoscopic surgery and bilaterally removed hypoplastic streak gonads. [ncbi.nlm.nih.gov]

• Primary Amenorrhea

  The authors present a case of a 17-year-old woman with primary amenorrhea and poor breast development. They conducted a laparoscopic surgery and bilaterally removed hypoplastic streak gonads. [ncbi.nlm.nih.gov]

• Clitoromegaly

  At birth, the perceived female external genitalia and clitoromegaly, led the parents to register and eventually rear the patient as a female. At puberty, he developed masculine features and growth of phallus. [ncbi.nlm.nih.gov]

  Here we describe a rare association of gonadal dysgenesis and clitoromegaly in a girl with AT. [casereports.in]

  Phenotype may be ambiguous, male, female, Turner-like syndrome or intersex Müllerian structures present since no / minimal anti-Müllerian hormone is produced Usually bilateral fallopian tubes are present, occasionally vas deferens Females may exhibit clitoromegaly [pathologyoutlines.com]

  There was a urogenital opening without clitoromegaly. Pelvic ultrasound demonstrated inguinal gonads and absence of uterus and ovaries. [doi.org]

A family history and prenatal history are useful in determining whether or not there is a genetic cause, and in exposing the influence of external androgens on the fetus.

As there is a vast differential for gonadal dysgenesis, tests carried out are to narrow down the possible diagnosis. Despite this, there are some cases where a diagnosis is never reached [1] [4]. Genetic testing and karyotyping may be conducted to determine the genotype of the individual, although it is not routinely performed. Hormonal tests are also done to assess the functionality of gonads and adrenal glands, as CAH is a common GD. Hormonal stimulation tests are utilized in the determination of receptor abnormalities. Urinalysis is also indicated.

The first imaging study done is usually a pelvic ultrasound. This gives information on the internal urogenital structures. Genitograms performed with contrast provide further information on the ductal system of the pelvic organs. Computerized tomography (CT) and magnetic resonance imaging (MRI) are not routinely used.

Individuals for whom all other modalities fail to establish a clear result, surgical exploration via laparoscopy or laparotomy is possible, although laparoscopy is often preferred [4] [5]. A biopsy of tissue determines its origin and may aid in making a final diagnosis [6].

The patient had pure 46,XY gonadal dysgenesis with hypoplastic uterus, estrogen treatment for amenorrhea, and no neoplastic changes on the histopathology report. [ncbi.nlm.nih.gov]

[…] 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]

Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Causes Differentiating Turner syndrome from other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications and Prognosis [wikidoc.org]

Prognosis With appropriate management, the physiological and clinical outcome for patients is good. The documents contained in this web site are presented for information purposes only. [orpha.net]

Although affected individuals may experience paralysis of the affected areas that lasts for months or even years, the prognosis is generally favorable with most individuals experiencing complete recovery within 2 years. [autoimmune.org]

However, its exact etiological role in gonadal dysgenesis in patients with Y chromosome mosaicisms has not yet been clarified. [ncbi.nlm.nih.gov]

Etiology Ovarian dysgenesis results from genetic defects of ovarian development. [orpha.net]

Burlington, VT 05403 Search for more papers by this author First published: 1 July 1991 Cited by: 8 Abstract Pure gonadal dysgenesis with 46,XX genotype is a rare abnormality with unknown etiology. [doi.org]

Its epidemiology in Sub-Saharan Africa is not known. This study reports experience in the management of 3 cases at the Yaounde Gynecologic-Obstetric and Paediatric Hospital. [ncbi.nlm.nih.gov]

[…] search Turner Syndrome ICD-10 Q96 ICD-9 758.6 DiseasesDB 13461 MeSH D014424 Turner syndrome Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Causes Differentiating Turner syndrome from other Diseases Epidemiology [wikidoc.org]

Summary Epidemiology Prevalence is unknown but is thought to be less than 1/10,000. Clinical description Patients are born as females without ambiguity. [orpha.net]

Clinical and epidemiological description of aortic dissection in Turner's syndrome. Cardiol Young 2006; 16:430-436 [Google Scholar] 30. Lim MS, Straus SE, Dale JK, et al. Pathological findings in human autoimmune lymphoproliferative syndrome. [ajronline.org]

PPPR3C provides insight into pathophysiology, as well as emerging as a potential therapeutic target for male infertility. [ncbi.nlm.nih.gov]

Jump to navigation Jump to search Turner Syndrome ICD-10 Q96 ICD-9 758.6 DiseasesDB 13461 MeSH D014424 Turner syndrome Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Causes Differentiating Turner [wikidoc.org]

Pathophysiology and clinical assessment of primary amenorrhea. Frontiers in Gynecological Endocrinology. New York: Springer; 2014. p. 3-7. 3. Speroff L, Fritz MA. Clinical gynecologic endocrinology and infertility. [advbiores.net]

Currently, the basic pathophysiology of the lack of androgen effect on the genitalia is understood more fully. Some patients are receptor-negative; their cytosol receptors cannot bind DHT. [emedicine.medscape.com]

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996;81:130–6. PubMed Google Scholar Rosler A, Bélanger A, Labrie F. [doi.org]

Chomatin negative Barr bodies Low immunoglobulins levels Prognostic factors High risk for gonadoblastoma (30%) if Y chromosome material is present, which may obliterate testicular elements and cause incorrect diagnosis Treatment Excise gonads early to prevent [pathologyoutlines.com]

Once the diagnosis of Swyer syndrome is established, early treatment is crucial to prevent the development of gonadal malignancy and to enable a normal sex life, and even carry a fetus in an immature uterus. [ncbi.nlm.nih.gov]

Secondary Prevention Cost-Effectiveness of Therapy Future or Investigational Therapies Case Studies Case #1 Turner syndrome On the Web Most recent articles Most cited articles Review articles CME Programs Powerpoint slides Images American Roentgen Ray [wikidoc.org]

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3. Ottolenghi C, Omari S, Garcia-Ortis JE, et al. FOXL2 is required for commitment to ovary differentiation. Hum Mol Genet. 2005;14(14):2053-2062.
4. MacLaughlin DT, Donahoe PK. Sex determination and differentiation. N Engl J Med. 2004;350(4):367–378.
5. Ahmed SF, Cheng A, Dovey L, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab. 2000;85(2):658–665.
6. Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY. True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. Mod Pathol. 2002;15(10):1013–1019.