RESEARCH QUESTION: The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. [ncbi.nlm.nih.gov]

Most present with ambiguous genitalia with various degrees of virilisation, though normal female genitalia may be present rarely. Rarely individuals present in puberty with secondary sexual characters contradicting their sex. [jpgo.org]

[…] hypoplastic labia minora, rudimentary vagina with small introitus was present. [scopemed.org]

Most children present with ambiguous genitalia in combination with unilateral or bilateral undescended gonads.[1, 2] Herein we present our experience of two late-diagnosed children with ovotesticular DSD. [apspjcaserep.com]

It is the most common presentation. [urologyannals.com]

• Rigor

  Therefore, a rigorous follow-up is needed. About Müllerian remnants; the possibility of degeneration is exceptional, although some authors describe it ( 4 ). [frontiersin.org]

  If a testis is located in the scrotum, maintaining rigorous follow-up with sonography and/or pelvic MRI is prudent, and a biopsy after puberty is indicated to detect early premalignant or malignant transformation. [emedicine.medscape.com]

• Normal Stature

  On general examination, she was a normal statured phenotypic female with Tanner stage 1, no breast development and no pubic hair. Genitalia consisted of 7 cm phallic structure and labio-scrotalfolds with non-palpable testes (Fig. 1). [jpss.eu]

• Scrotal Mass

  Signs and symptoms of ovotesticular DSD Lower abdominal pain Breast development in boys Inguinal hernia Inguino scrotal mass Cryptorchidism The absence of a menstrual period Causes of ovotesticular DSD In most cases of ovotesticular DSD, the cause is [allthingsvagina.com]

Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency. [explore.openaire.eu]

Radiologists and radiologic technologists, including those who perform prenatal examinations, should be familiar with the imaging workup for DSD. [pubs.rsna.org]

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.com]

Treatment depends on the type of ambiguous genitalia and will usually include corrective surgery to preserve, remove and or create reproductive organs appropriate for your child's gender. Treatment may also include hormone replacement therapy (HRT). [columbiadoctors.org]

Plastic surgery is the mainstay after gender is assigned, based on genetic sex, gonadal sex, social sex, psychologic sex and patient request Conservative gonadal surgery with long term followup ( J Urol 2007;177:726 ) Case series on surgical treatment [pathologyoutlines.com]

We think that a multidisciplinary approach is essential: excellent medical, surgical, and psychological expertise is required in the treatment of OT-DSD. [frontiersin.org]

The clinical spectrum and treatment of ovotesticular disorder of sexual development. Adv Exp Med Biol. 2011;707:101-3. [allthingsvagina.com]

The prognosis depends on the specific cause of intersex. With understanding, support, and appropriate treatment, overall outlook is excellent. [medlineplus.gov]

Comparison with the previous terms and a new etiologic classification are seen in Tables 582-1 and 582-2. Some of the genes involved in disorders of sex development are listed in Table 576-1. [clinicalgate.com]

ETIOLOGY OF TRUE HERMAPHRODITES 46,XX/46,XY true hermaphroditism is rare and usually caused by chimerism. [glowm.com]

BWS is a heterogeneous syndrome and its molecular etiology is very complex because many mechanisms are involved. [jmedicalcasereports.biomedcentral.com]

Chimerism as the etiology of a 46,XX/46,XY fertile true hermaphrodite. Fertil Steril. 1992 Feb. 57(2):346-9. [Medline]. Viger RS, Silversides DW, Tremblay JJ. [emedicine.medscape.com]

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

Female Gonadal Dysgenesis 60 46, Xx Gonadal Sex Reversal 54 46,xx Ovarian Dysgenesis 60 46,xx Ovotesticular Dsd 60 De La Chapelle Syndrome 60 Xx Male, Sry-Positive 58 Xx Male Sry-Positive 76 Xx, Male Syndrome 60 Ovotesticular Dsd 76 Fsh-Ro 60 Orphanet epidemiological [malacards.org]

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

Definition / general Ovarian and testicular tissue in the same individual (either bilateral or unilateral ovatestes or separate testis and ovary) with or without abnormal genitalia Epidemiology Very rare, with only about 500 cases identified worldwide [pathologyoutlines.com]

Epidemiologically, the geographical distribution of OT-DSD shows a higher prevalence in the African continent, especially among South African blacks, with the number of published cases being 17 per 100 million people [4]. [jpss.eu]

However, because of functioning normal ovarian tissue, most people experience breast development at puberty, and approximately two-thirds of those with a 46,XX peripheral karyotype menstruate. [1] Epidemiology Frequency International Ovotesticular disorder [emedicine.medscape.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]

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]

Pathophysiology People with ovotesticular disorder of sexual development are individuals who have both ovarian and testicular tissue. This diagnostic nomenclature is applied regardless of the peripheral karyotype. [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 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]

Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency. [explore.openaire.eu]

Patients develop testes (often found in the labia majora); surgically removed to prevent malignancy. [quizlet.com]

Overproduction of male hormones before birth is often due to adrenal gland abnormality (as described in CAH), yet it also results when high levels of male hormones enter the placenta or when the mother receives progesterone to prevent a miscarriage or [columbiadoctors.org]