In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present. [ncbi.nlm.nih.gov]

When an ovotestis is present, one third of the patients exhibit bilateral ovotestes. A testicle, when present, is more likely to exist on the right (57.4%), and an ovary, when present, is more common on the left (62%). [emedicine.medscape.com]

Psychological support is important to minimize psychological distress. [7] In the present case we found gynecomastia, short stature, microorchidism with Wolffian structure, and absence of Mullerian derivatives. [ijem.in]

CONCLUSION: Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility workup. [ncbi.nlm.nih.gov]

A case report of an incidental finding of a 46, XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance. [medimay.sld.cu]

Conclusion: Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility workup. [intbrazjurol.com.br]

Treatment and management of 46,XX DSD Treatment and management will start at puberty with testosterone to trigger male sex characteristics to develop like facial hair and a deeper voice. This treatment also prevents breast development. [allthingsvagina.com]

[…] nodules; and new coverage of when and when not to use radioiodine in the treatment of patients with thyroid cancer. [books.google.com]

Treatment for osteopenia is by standard protocols. Providers are encouraged to anticipate the need for further psychological support. [ncbi.nlm.nih.gov]

Treatment for atypical genitalia depends of the type of the disorder, but will usually include corrective surgery to remove or create reproductive organs appropriate for the gender of the child. [stanfordchildrens.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

January 2016） 小児科 57巻1号 （2016年1月） 綜説 性分化疾患の長期予後　精神的性発達と性機能に関して 1 獨協医科大学 小児科 キーワード： 形成外科, 生殖能力, 小児の発達, 性行動, 性腺異形成-46XY, 性別違和, 性分化疾患, 予後, 患者の満足度, 性染色体異常, 性分化疾患-46XX精巣性 Keyword: Gender Dysphoria, Child Development, Fertility, Gonadal Dysgenesis, 46,XY, Prognosis [webview.isho.jp]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The frequency, etiology and diagnosis of this syndrome are reviewed here. [asean-endocrinejournal.org]

The etiology of maleness in XX men. Hum Genet 1981; 58: 105-16. 2. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellousi M. Genetic evidence equating SRY and the testisdetermining factor. Nature 1990; 348: 448-50. 3. [mjcu.or.kr]

Penetrance Penetrance in those with a known genetic etiology is believed to be 100%, but no data are available. [ncbi.nlm.nih.gov]

Understanding the molecular etiology underlying normal gonadal development allowed the development of markers to estimate the risk for GCC. 76 It is expected that, with increased accessibility of diagnostic facilities, and with more children with these [dovepress.com]

Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility - Rare urogenital disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res. 2006;66(4):195–203. 2. Ahmed SF, Dobbie R, Finlayson AR, et al. [dovepress.com]

Covers the full spectrum of reproductive pathophysiology and disorders, from pregnancy and birth to reproductive aging. Includes the work of leaders in the field of reproductive endocrinology for guidance you can trust. [books.google.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test This test is appropriate for individuals with a 46,XX karyotype and phenotypically normal male external genitalia, a 46,XY karyotype [mayomedicallaboratories.com]

Absence of Müllerian tissue Pathophysiology Males typically have one X chromosome and one Y chromosome in each diploid cell of their bodies. Females typically have two X chromosomes. [ipfs.io]

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]

The review is subdivided into four main sections: the first section covers the pathway of the genetic control and the pathophysiology of sex development as well as the current classification of DSD and the initial diagnostic investigations. [dovepress.com]

This treatment also prevents breast development. Adults tend to be shorter and are infertile. [allthingsvagina.com]

This can occur if hormones enter the placenta via the mother, such as when the mother receives progesterone to prevent a miscarriage or has a hormone-producing tumor. [stanfordchildrens.org]

The basic biochemical defect is an enzymatic block that prevents sufficient cortisol production. Biofeedback via the pituitary gland causes the precursor to accumulate above the block. [emedicine.medscape.com]

Hormone treatment can also help prevent breast enlargement (gynecomastia). Adults with this disorder are usually shorter than average for males and are unable to have children (infertile). [ghr.nlm.nih.gov]