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Female Pseudohermaphroditism

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41. Benign Vulvar Lesions (Follow-up)

growths of vestibular mucosa are normal variants of female anatomy. Their origin is unknown. No association with human papillomavirus infection has been detected so far. Congenital malformations Ambiguous external genitalia is a term used to describe situations in which the external genital organs are not clearly female or male at birth. Abnormalities of the external genitalia occur in 1 in 4500 births. [ ] The 3 main etiologic categories include (1) female pseudohermaphroditism, accounting for 80 (...) % of ambiguous genitalia; (2) male pseudohermaphroditism, occurring in approximately 15% of cases; and (3) disorders of differentiation. The preponderance of female pseudohermaphroditism is due to a recessive congenital enzymatic defect of adrenal steroid biosynthesis (most commonly, 21-hydroxylase deficiency), resulting in androgen overproduction that virilizes the external genitalia of a female 46,XX fetus with normal ovaries. Although rare, maternal factors can also virilize a female fetus. In male

2014 eMedicine.com

42. Urethral Diverticulum (Diagnosis)

associated with lower urinary tract congenital anomalies or surgical trauma. In a series of 108 female patients from the Mayo Clinic, the age range was reported as 10-76 years, with the disorder observed most commonly in women aged 30-50 years. Very rarely, periurethral cystic masses have been reported in newborns. Whether these masses represent a congenital form of urethral diverticulum or some type of genitourinary congenital remnant remains uncertain. Previous Next: Etiology The etiology of urethral (...) Urogynecol J Pelvic Floor Dysfunct . 2007 Apr. 18(4):467-9. . El-Nashar SA, Singh R, Bacon MM, Kim-Fine S, Occhino JA, Gebhart JB, et al. Female Urethral Diverticulum: Presentation, Diagnosis, and Predictors of Outcomes After Surgery. Female Pelvic Med Reconstr Surg . 2016 Nov/Dec. 22 (6):447-452. . Wang AC, Wang CR. Radiologic diagnosis and surgical treatment of urethral diverticulum in women. A reappraisal of voiding cystourethrography and positive pressure urethrography. J Reprod Med . 2000 May. 45(5

2014 eMedicine.com

43. Nonneoplastic Epithelial Disorders of the Vulva (Diagnosis)

growths of vestibular mucosa are normal variants of female anatomy. Their origin is unknown. No association with human papillomavirus infection has been detected so far. Congenital malformations Ambiguous external genitalia is a term used to describe situations in which the external genital organs are not clearly female or male at birth. Abnormalities of the external genitalia occur in 1 in 4500 births. [ ] The 3 main etiologic categories include (1) female pseudohermaphroditism, accounting for 80 (...) % of ambiguous genitalia; (2) male pseudohermaphroditism, occurring in approximately 15% of cases; and (3) disorders of differentiation. The preponderance of female pseudohermaphroditism is due to a recessive congenital enzymatic defect of adrenal steroid biosynthesis (most commonly, 21-hydroxylase deficiency), resulting in androgen overproduction that virilizes the external genitalia of a female 46,XX fetus with normal ovaries. Although rare, maternal factors can also virilize a female fetus. In male

2014 eMedicine.com

44. Ovotestis (Diagnosis)

with bilateral ovotestes, bilateral gonadoblastomas and dysgerminomas, 46,XX/46,XY karyotype, and a successful pregnancy. Cancer . 1990 Dec 15. 66(12):2668-72. . Tanaka Y, Fujiwara K, Yamauchi H, et al. Pregnancy in a woman with a Y chromosome after removal of an ovarian dysgerminoma. Gynecol Oncol . 2000 Dec. 79(3):519-21. . Teele RL, Share JC. Ultrasonography of the female pelvis in childhood and adolescence. Radiol Clin North Am . 1992 Jul. 30(4):743-58. . Toublanc JE, Boucekkine C, Abbas N, et al (...) with sonography and/or pelvic MRI is prudent, and a biopsy after puberty is indicated to detect early premalignant or malignant transformation. One case report of a 47-year-old 46,XX/46,XY woman with a malignant phyllodes tumor in the right breast and an invasive lobular carcinoma in the left breast suggests a modified breast cancer risk similar to that observed in Klinefelter syndrome. [ ] Another case reported an invasive squamous cell carcinoma of the vagina, serving as a reminder that malignant changes

2014 eMedicine.com

45. Ovarian Dysgerminomas (Diagnosis)

malignancies, but complications such as torsion and rupture may increase the incidence of spontaneous abortion or preterm delivery. Race To date, no racial predilection exists for ovarian germ cell tumors (GCTs). Sex These tumors mostly occur in women, although the disease also occurs in pseudohermaphrodites and patients with gonadal dysgenesis (see Complications). Testicular seminomas are the male histologic counterparts to dysgerminomas. Age Although most ovarian cancers occur during the menopausal (...) . The most commonly occurring GCT is the dysgerminoma, which accounts for approximately 2% of all . Although rare, dysgerminomas are important irrespective of incidence because they most commonly affect women of reproductive age (ie, < 30 y). In fact, dysgerminomas make up two thirds of all malignant ovarian neoplasms in women younger than 20 years. Moreover, once diagnosed, dysgerminomas respond well to therapy, potentially sparing patients from and early mortality. Next: Pathophysiology Typically, germ

2014 eMedicine.com

46. Nonneoplastic Epithelial Disorders of the Vulva (Overview)

growths of vestibular mucosa are normal variants of female anatomy. Their origin is unknown. No association with human papillomavirus infection has been detected so far. Congenital malformations Ambiguous external genitalia is a term used to describe situations in which the external genital organs are not clearly female or male at birth. Abnormalities of the external genitalia occur in 1 in 4500 births. [ ] The 3 main etiologic categories include (1) female pseudohermaphroditism, accounting for 80 (...) % of ambiguous genitalia; (2) male pseudohermaphroditism, occurring in approximately 15% of cases; and (3) disorders of differentiation. The preponderance of female pseudohermaphroditism is due to a recessive congenital enzymatic defect of adrenal steroid biosynthesis (most commonly, 21-hydroxylase deficiency), resulting in androgen overproduction that virilizes the external genitalia of a female 46,XX fetus with normal ovaries. Although rare, maternal factors can also virilize a female fetus. In male

2014 eMedicine.com

47. Teratology and Drug Use During Pregnancy (Overview)

, and weigh risks and benefits of treatment. The most important consideration is the underlying disease and the consideration of the consequences of interrupting or stopping treatment. [ ] In a 2008 Canadian study, 19.4% of women were found to have used FDA category C, D and X medications at least once during pregnancy, the most common of these being albuterol, co-trimoxazole, ibuprofen, naproxen and oral contraceptives. [ ] Analyzing the same data, Yang noted that woman who had such exposure were more (...) should not be administered to a woman of childbearing potential unless the drug is essential to the management of her medical condition. Valproate should not be used to treat women with epilepsy who are pregnant or who plan to become pregnant unless other treatments have failed to provide adequate symptom control or are otherwise unacceptable. Available prenatal diagnostic testing to detect neural tube and other defects should be offered to pregnant women using valproate. Evidence suggests that folic

2014 eMedicine.com

48. C-17 Hydroxylase Deficiency (Overview)

Hydroxylase Deficiency Updated: Feb 01, 2018 Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD Share Email Print Feedback Close Sections Sections C-17 Hydroxylase Deficiency Overview Practice Essentials The rare variant of congenital adrenal hyperplasia (CAH) known as 17-hydroxylase deficiency was first described in the 1960s in patients with sexual infantilism and hypertension. It has also been described to present in the setting of male pseudohermaphroditism. [ , ] Patients with 17 (...) Africa and from the black diaspora. Sex Because 17-hydroxylase deficiency is an autosomal recessive disease, males and females are affected equally. It is important to note is that if karyotypes are not checked, the disease will be detected more often in females than in males, because males with classic 17-hydroxylase deficiency are phenotypic females. Age The most common stage of life at which 17-hydroxylase deficiency is detected is late adolescence, when the lack of sexual development associated

2014 eMedicine.com

49. Adrenal Disease and Pregnancy (Treatment)

is converted to cortisone by 11beta-hydroxysteroid dehydrogenase. Circulating C-19 steroids in the maternal compartment, such as dehydroepiandrosterone sulfate, dehydroepiandrosterone, androstenedione, and testosterone, do not reach the fetal compartment because of the presence of aromatase enzymes of the syncytiotrophoblast that are used for the conversion of C-19 steroids to estrogens. This mechanism protects the female fetus from possible virilization in women who develop androgen-secreting tumors (...) . Approximately 5-8% of cases of CAH are caused by a deficiency in 11beta-hydroxylase. A deficiency in 17alpha-hydroxylase is a rare cause of CAH, and experience with this disorder is limited to case reports. Successful live birth in a woman with 17 alpha-hydroxylase deficiency through IVF frozen- thawed embryo transfer was reported by Bianchi et al. [ ] Women with CAH resulting from a 21-hydroxylase deficiency, particularly those with the salt-wasting variant of this syndrome, have decreased fertility rates

2014 eMedicine.com

50. Anabolic Steroid Use and Abuse (Treatment)

present in females in small amounts. Due to the negative feedback system, the release of LH and FSH decline, leading to a decrease in estrogens and progesterone. AAS use by a pregnant woman can cause pseudohermaphroditism or virilization in the female fetus or may even cause fetal death. The American College of Obstetricians and Gynecologists (ACOG) includes anabolic steroids in the list for routine substance-abuse-disorder screening. Healthcare professionals are encouraged to address the use (...) and approximately 1 million have developed AAS dependence. [ ] The global lifetime prevalence is estimated at 3.3%. Men use AASs significantly more than women, although use among females is increasing. The global lifetime prevalence for males is 6.4% compared to 1.6% for females. [ ] AAS use is no longer limited to elite athletes but is now being used by the general population. Over half a million high school students in the US have taken AASs for nonmedical purposes. [ ] Morbidity and mortality The chronic use

2014 eMedicine.com

51. Benign Vulvar Lesions (Treatment)

growths of vestibular mucosa are normal variants of female anatomy. Their origin is unknown. No association with human papillomavirus infection has been detected so far. Congenital malformations Ambiguous external genitalia is a term used to describe situations in which the external genital organs are not clearly female or male at birth. Abnormalities of the external genitalia occur in 1 in 4500 births. [ ] The 3 main etiologic categories include (1) female pseudohermaphroditism, accounting for 80 (...) % of ambiguous genitalia; (2) male pseudohermaphroditism, occurring in approximately 15% of cases; and (3) disorders of differentiation. The preponderance of female pseudohermaphroditism is due to a recessive congenital enzymatic defect of adrenal steroid biosynthesis (most commonly, 21-hydroxylase deficiency), resulting in androgen overproduction that virilizes the external genitalia of a female 46,XX fetus with normal ovaries. Although rare, maternal factors can also virilize a female fetus. In male

2014 eMedicine.com

52. C-17 Hydroxylase Deficiency (Treatment)

are added if hypertension persists. Moderation of dietary sodium intake is recommended. Hormone replacement regimens are best begun early in adolescence to achieve their greatest potential. They allow the development of female secondary sexual characteristics and stimulate the normal increase in bone mass that occurs with puberty. Estrogen replacement is initiated at the time of expected puberty; if that time has passed, the replacement therapy is initiated at the time of diagnosis. Patients who are 46 (...) ,XX require combined estrogen/progestin cyclic or combined therapy to prevent endometrial hyperplasia from unopposed estrogen. Patients who are 46,XY lack müllerian structures and are often treated with estrogen alone if they first come to medical attention during the age of puberty and had hitherto been raised as girls. The decision to instead effect a sex identity change and treat such patients with androgen replacement and extensive genital reconstructive surgery should not be entered

2014 eMedicine.com

53. Ovotestis (Treatment)

of the gonads for histologic confirmation, removal of intra-abdominal testis or streak gonads with Y chromosome-DNA (because of their increased malignant potential), removal of wolffian structures and testicular tissue if the patient has been given a female gender assignment, removal of müllerian structures and ovarian tissue if the patient has been given a male gender assignment, and orchiopexy to reposition a maldescended testis in a patient with male gender assignment. Because most cases of ovotesticular (...) of ovotestes guided by intraoperative histologic examination. It allows preservation of gonadal tissue concordant with sex of rearing, and removal of all discordant tissue. An ovarian segment can be preserved in people who are given a female sex assignment. Frequently, these segments demonstrate normal ovarian function and confer potential for reproduction. Clitoral recession, vaginoplasty, and labioscrotal reduction are necessary for people with ovotesticular disorder of sexual development who are given

2014 eMedicine.com

54. Prostate Hyperplasia, Benign (Treatment)

, and/or digital rectal examination. [ ] Unlike alpha-blockers, which work by reducing smooth muscle tone, 5-ARIs improve LUTS by reducing prostate volume. Thus, patients with larger prostates may achieve a greater benefit. Maximal reduction in prostate volume requires 6 months of therapy. The role of 5-ARIs in medical management of BPH emerged from the discovery of a congenital form of pseudohermaphroditism secondary to dihydrotestosterone (DHT) deficiency, which results from a lack of 5-alpha-reductase (...) to be investigated. [ ] Because 5-ARIs interfere with the metabolism of testosterone, pregnant females or those who are considering conception should not handle crushed or broken tablets because of the potential for absorption and subsequent potential risk to a male fetus. 5-alpha reductase inhibitors and prostate cancer On June 9, 2011, the US Food and Drug Administration (FDA) announced revisions to the prescribing information for 5-ARIs. The FDA advised that prior to initiating therapy with 5-ARIs, clinicians

2014 eMedicine.com

55. Nonneoplastic Epithelial Disorders of the Vulva (Treatment)

growths of vestibular mucosa are normal variants of female anatomy. Their origin is unknown. No association with human papillomavirus infection has been detected so far. Congenital malformations Ambiguous external genitalia is a term used to describe situations in which the external genital organs are not clearly female or male at birth. Abnormalities of the external genitalia occur in 1 in 4500 births. [ ] The 3 main etiologic categories include (1) female pseudohermaphroditism, accounting for 80 (...) % of ambiguous genitalia; (2) male pseudohermaphroditism, occurring in approximately 15% of cases; and (3) disorders of differentiation. The preponderance of female pseudohermaphroditism is due to a recessive congenital enzymatic defect of adrenal steroid biosynthesis (most commonly, 21-hydroxylase deficiency), resulting in androgen overproduction that virilizes the external genitalia of a female 46,XX fetus with normal ovaries. Although rare, maternal factors can also virilize a female fetus. In male

2014 eMedicine.com

56. Teratology and Drug Use During Pregnancy (Treatment)

, and weigh risks and benefits of treatment. The most important consideration is the underlying disease and the consideration of the consequences of interrupting or stopping treatment. [ ] In a 2008 Canadian study, 19.4% of women were found to have used FDA category C, D and X medications at least once during pregnancy, the most common of these being albuterol, co-trimoxazole, ibuprofen, naproxen and oral contraceptives. [ ] Analyzing the same data, Yang noted that woman who had such exposure were more (...) should not be administered to a woman of childbearing potential unless the drug is essential to the management of her medical condition. Valproate should not be used to treat women with epilepsy who are pregnant or who plan to become pregnant unless other treatments have failed to provide adequate symptom control or are otherwise unacceptable. Available prenatal diagnostic testing to detect neural tube and other defects should be offered to pregnant women using valproate. Evidence suggests that folic

2014 eMedicine.com

57. Ovotestis (Overview)

with bilateral ovotestes, bilateral gonadoblastomas and dysgerminomas, 46,XX/46,XY karyotype, and a successful pregnancy. Cancer . 1990 Dec 15. 66(12):2668-72. . Tanaka Y, Fujiwara K, Yamauchi H, et al. Pregnancy in a woman with a Y chromosome after removal of an ovarian dysgerminoma. Gynecol Oncol . 2000 Dec. 79(3):519-21. . Teele RL, Share JC. Ultrasonography of the female pelvis in childhood and adolescence. Radiol Clin North Am . 1992 Jul. 30(4):743-58. . Toublanc JE, Boucekkine C, Abbas N, et al (...) with sonography and/or pelvic MRI is prudent, and a biopsy after puberty is indicated to detect early premalignant or malignant transformation. One case report of a 47-year-old 46,XX/46,XY woman with a malignant phyllodes tumor in the right breast and an invasive lobular carcinoma in the left breast suggests a modified breast cancer risk similar to that observed in Klinefelter syndrome. [ ] Another case reported an invasive squamous cell carcinoma of the vagina, serving as a reminder that malignant changes

2014 eMedicine.com

58. Ovarian Dysgerminomas (Overview)

, but complications such as torsion and rupture may increase the incidence of spontaneous abortion or preterm delivery. Race To date, no racial predilection exists for ovarian germ cell tumors (GCTs). Sex These tumors mostly occur in women, although the disease also occurs in pseudohermaphrodites and patients with gonadal dysgenesis (see Complications). Testicular seminomas are the male histologic counterparts to dysgerminomas. Age Although most ovarian cancers occur during the menopausal and perimenopausal years (...) (ie, 50-59 y), dysgerminomas tend to occur frequently in the pediatric population. Dysgerminomas are most commonly observed in younger women. Seventy-five percent of dysgerminomas occur in patients in the third and fourth decades of life, with the mean age being 22 years. Previous References Gimelli S, Beri S, Drabkin HA, Gambini C, Gregorio A, Fiorio P, et al. The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl

2014 eMedicine.com

59. Urethral Diverticulum (Overview)

associated with lower urinary tract congenital anomalies or surgical trauma. In a series of 108 female patients from the Mayo Clinic, the age range was reported as 10-76 years, with the disorder observed most commonly in women aged 30-50 years. Very rarely, periurethral cystic masses have been reported in newborns. Whether these masses represent a congenital form of urethral diverticulum or some type of genitourinary congenital remnant remains uncertain. Previous Next: Etiology The etiology of urethral (...) Urogynecol J Pelvic Floor Dysfunct . 2007 Apr. 18(4):467-9. . El-Nashar SA, Singh R, Bacon MM, Kim-Fine S, Occhino JA, Gebhart JB, et al. Female Urethral Diverticulum: Presentation, Diagnosis, and Predictors of Outcomes After Surgery. Female Pelvic Med Reconstr Surg . 2016 Nov/Dec. 22 (6):447-452. . Wang AC, Wang CR. Radiologic diagnosis and surgical treatment of urethral diverticulum in women. A reappraisal of voiding cystourethrography and positive pressure urethrography. J Reprod Med . 2000 May. 45(5

2014 eMedicine.com

60. Benign Vulvar Lesions (Overview)

variants of female anatomy. Their origin is unknown. No association with human papillomavirus infection has been detected so far. Congenital malformations Ambiguous external genitalia is a term used to describe situations in which the external genital organs are not clearly female or male at birth. Abnormalities of the external genitalia occur in 1 in 4500 births. [ ] The 3 main etiologic categories include (1) female pseudohermaphroditism, accounting for 80% of ambiguous genitalia; (2) male (...) pseudohermaphroditism, occurring in approximately 15% of cases; and (3) disorders of differentiation. The preponderance of female pseudohermaphroditism is due to a recessive congenital enzymatic defect of adrenal steroid biosynthesis (most commonly, 21-hydroxylase deficiency), resulting in androgen overproduction that virilizes the external genitalia of a female 46,XX fetus with normal ovaries. Although rare, maternal factors can also virilize a female fetus. In male pseudohermaphroditism, healthy 46,XY infants

2014 eMedicine.com

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