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Female Pseudohermaphroditism

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41. Adrenal Disease and Pregnancy (Follow-up)

with classic 21-hydroxylase deficiency—3 of whom were female pseudohermaphrodites with the salt-wasting form—following treatment with glucocorticoids. The patients gave birth to 4 females, all healthy and with normal female external genitalia. None of the neonates was affected with 21-hydroxylase deficiency. The placental aromatase activity was sufficient to prevent masculinization of the fetuses' external genitalia in all of these patients. [ ] The authors recommended treatment with glucocorticoids (...) be considered in patients who have had reconstructive genital surgery. Evaluation of the infant . Female pseudohermaphroditism may be either a consequence of maternal hyperandrogenism or, if the father is a carrier, of fetal 21-hydroxylase deficiency. (Male infants may have enlarged external genitalia.) If the external genitalia are ambiguous, appropriate laboratory studies should be performed on the infant to exclude 21-hydroxylase deficiency. Fetal diagnosis and treatment of CAH Diagnosis CAH caused

2014 eMedicine.com

42. Anabolic Steroid Use and Abuse (Follow-up)

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 (...) this AAS as Oxandrin, largely for the drug's use in HIV-related disease. Due to its mild androgenic properties, oxandrolone is one of the few agents to be routinely abused by female athletes. Athletes, from weightlifters to boxers, use oxandrolone, seeking to increase strength without experiencing additional weight gain. Stanozolol Stanozolol is an active AAS, due to the stability afforded by the 3,2 pyrazole group on the A-ring, which greatly enhances androgen receptor binding. The C-17 methyl group

2014 eMedicine.com

43. 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

44. Urethral Diverticulum (Diagnosis)

on the incidence of urethral diverticulum. This statement reflects both the difficulty of the diagnosis and the varying levels of awareness of the disorder throughout the medical community. Recently, increased awareness and discussion of urethral diverticula have allowed the diagnosis to be made more frequently and with less delay than in the past. Next: History of the Procedure In 1805, William Hey first described a female with suburethral diverticulum in the medical literature; however, he claimed to have (...) first observed and treated this lesion about 20 years earlier. In the first half of the 20th century, only 17 cases were reported, and, as a result, the condition was assumed to be quite rare. Reports of cases, including a large series from Johns Hopkins Hospital, dating from 1950-1970 have revealed that suburethral diverticula in fact are not rare. Increased awareness of the diagnosis and increased interest in female urology and urogynecology have led to the publication of many reports and review

2014 eMedicine.com

45. 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

46. Anabolic Steroid Use and Abuse (Overview)

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 (...) this AAS as Oxandrin, largely for the drug's use in HIV-related disease. Due to its mild androgenic properties, oxandrolone is one of the few agents to be routinely abused by female athletes. Athletes, from weightlifters to boxers, use oxandrolone, seeking to increase strength without experiencing additional weight gain. Stanozolol Stanozolol is an active AAS, due to the stability afforded by the 3,2 pyrazole group on the A-ring, which greatly enhances androgen receptor binding. The C-17 methyl group

2014 eMedicine.com

47. Sexuality: Gender Identity (Follow-up)

, the prenatal exposure to androgens results in virilization of female genitalia, in what has been called female pseudohermaphroditism. At times, virilization is complete, with substantial clitoromegaly. In such cases, the genitalia are so masculine that male sex is mistakenly assigned to the newborn at birth. Soon, clinical findings and symptomatology reveal the defect in the adrenal gland and the true female genotype of the child. Serious salt-losing nephropathy may be the presenting problem in certain (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTE3OTkwLW92ZXJ2aWV3 processing > Gender Identity Updated: Mar 16, 2015 Author: Shuvo Ghosh, MD; Chief Editor: Caroly Pataki, MD Share Email Print Feedback Close Sections Sections Gender Identity Definitions Gender identity and gender role Gender identity is defined as a personal conception of oneself as male or female (or rarely, both or neither). This concept is intimately related to the concept of gender role, which is defined as the outward manifestations of personality that reflect the gender identity. Gender

2014 eMedicine Pediatrics

48. Primary Generalized Glucocorticoid Resistance (Follow-up)

of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. Clin Endocrinol (Oxf) . 2001 Sep. 55(3):363-71. . Mendonca BB, Leite MV, de Castro M, et al. Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene. J Clin Endocrinol Metab . 2002 Apr. 87(4):1805-9. . Vottero A, Kino T, Combe H, Lecomte P, Chrousos GP. A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through

2014 eMedicine Pediatrics

49. Denys-Drash Syndrome (Diagnosis)

. [ ] This condition clinically manifests as an early onset and progresses to renal failure during the first 3 years of life. Among the intersex disorders, pure gonadal dysgenesis with male pseudohermaphroditism is the classic presentation, although a wide variety of abnormalities in gonadal differentiation can be encountered. Next: Pathophysiology Denys-Drash syndrome is the result of mutations in the WT1 gene on chromosome band 11p13. [ , , , ] The WT1 gene contains 10 exons that produce 4 different messenger (...) in the native kidneys and are at significant risk for development of gonadoblastoma in the dysgenetic gonads. Race-, sex-, and age-related demographics Denys-Drash syndrome has no race predilection. Although both sexes can be affected, the presence of intersex disorders makes the estimation of the male-to-female ratio misleading because individuals with Denys-Drash syndrome who are assigned the female gender may be genotypic males (XY gonadal dysgenesis with female phenotype). Ascertainment is also biased

2014 eMedicine Pediatrics

50. Benign Vulvar Lesions (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

51. C-17 Hydroxylase Deficiency (Diagnosis)

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

52. Anabolic Steroid Use and Abuse (Diagnosis)

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 (...) this AAS as Oxandrin, largely for the drug's use in HIV-related disease. Due to its mild androgenic properties, oxandrolone is one of the few agents to be routinely abused by female athletes. Athletes, from weightlifters to boxers, use oxandrolone, seeking to increase strength without experiencing additional weight gain. Stanozolol Stanozolol is an active AAS, due to the stability afforded by the 3,2 pyrazole group on the A-ring, which greatly enhances androgen receptor binding. The C-17 methyl group

2014 eMedicine.com

53. Teratology and Drug Use During Pregnancy (Treatment)

of these medications. [ ] Thus, the 5-letter system is being phased out over the next 3 years in favor of a more comprehensive system with a narrative summary of the risks posed by drugs. The FDA, the government agency that oversees the safety of drugs, provides the most widely used system to grade the teratogenic effects of medications. Each drug summary will have three sections: pregnancy, lactation, and females and males of reproductive potential. “Pregnancy” merges previous categories of “pregnancy” and “labor (...) and delivery.” “Lactation” replaces “breastfeeding mothers” and all medications will be required to have this section. [ ] “Females and males of reproductive potential” is a new category to include information about pregnancy testing, contraception requirements, and effects on fertility before, during, and after drug therapy. An additional requirement with the new FDA classification system, is the inclusion of information about pregnancy exposure registries under the “pregnancy” category. Contact

2014 eMedicine.com

54. 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 (...) hormone replacement may achieve this, calcium and vitamin D supplementation may be needed. Prophylactic or therapeutic bisphosphonate use also may be needed. DHEA supplementation may be considered, although this has not been approved by the US Food and Drug Administration (FDA). Several reports, including that by Arlt and colleagues, have suggested that DHEA supplementation in females who have adrenal insufficiency significantly improves overall well-being and sexual function. [ , ] Next: Surgical

2014 eMedicine.com

55. 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 (...) this AAS as Oxandrin, largely for the drug's use in HIV-related disease. Due to its mild androgenic properties, oxandrolone is one of the few agents to be routinely abused by female athletes. Athletes, from weightlifters to boxers, use oxandrolone, seeking to increase strength without experiencing additional weight gain. Stanozolol Stanozolol is an active AAS, due to the stability afforded by the 3,2 pyrazole group on the A-ring, which greatly enhances androgen receptor binding. The C-17 methyl group

2014 eMedicine.com

56. 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

57. 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

58. 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

59. 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

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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