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Female Pseudohermaphroditism

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61. Ovotestis (Follow-up)

intelligence and have a normal life expectancy. Fertility potential does exist in people with ovotesticular disorder of sexual development who are given a female sexual assignment. Ovulation can occur, and several pregnancies have been reported in this group. To date, all documented offspring have been male. One report describes a 46,XX/46,XY infertile chimeric male who fathered a child with sperm obtained from his testicular tissue through intracytoplasmic sperm injection. [ , , ] People (...) with a small portion being sexually dissatisfied. Those raised as males may complain of an inability to have and/or maintain erections, while females may complain of vaginal stenosis, recurrent cystitis, and hot flushes. [ ] Previous Next: Patient Education Once the diagnosis of genital ambiguity is made, ongoing psychological support for the patient, parents, and other family members is critical. [ ] Psychological counseling is perhaps even more important for patients with a diagnosis delayed until

2014 eMedicine.com

62. Prostate Hyperplasia, Benign (Follow-up)

, 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

63. 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 (...) 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

64. Adrenal Disease and Pregnancy (Overview)

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

65. Nonneoplastic Epithelial Disorders of the Vulva (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

66. C-17 Hydroxylase Deficiency (Follow-up)

: Patient Education For excellent patient education resources, visit eMedicineHealth's . Also, see eMedicineHealth's patient education article . Previous References Zachmann M, Vollmin JA, Hamilton W, et al. Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism. Clin Endocrinol (Oxf) . 1972 Oct. 1(4):369-85. . Zachmann M, Werder EA, Prader A. Two types of male pseudohermaphroditism due to 17, 20-desmolase deficiency. J Clin Endocrinol Metab . 1982 Sep. 55(3):487-90. . Arlt W (...) , Kanellopoulou N. Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. J Steroid Biochem Mol Biol . 1999 Apr-Jun. 69(1-6):19-29. . Arlt W, Callies F, van Vlijmen JC. Dehydroepiandrosterone replacement in women with adrenal insufficiency. N Engl J Med . 1999 Sep 30. 341(14):1013-20. . . Callies F, Fassnacht M, van Vlijmen JC. Dehydroepiandrosterone replacement in women with adrenal insufficiency: effects on body composition, serum leptin, bone turnover, and exercise capacity. J Clin

2014 eMedicine.com

67. Teratology and Drug Use During Pregnancy (Follow-up)

, 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

68. 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 (...) 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

69. Adrenal Disease and Pregnancy (Follow-up)

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

70. 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

71. 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 (...) 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

72. 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

73. Adrenal Disease and Pregnancy (Diagnosis)

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

74. Nephrotic Syndrome (Overview)

at 1-2 mg/kg/d), may improve edema. Metolazone may be beneficial in combination with furosemide for resistant edema. Antihypertensive agents Angiotensin-converting enzyme (ACE) inhibitors and angiotensin II receptor blockers (ARBs) can reduce hypertension and may also contribute to reducing proteinuria. However, ACE inhibitors and ARBs can cause birth defects, so adolescent women who are taking these agents must be counseled regarding use of birth control, and pregnancy testing should be considered (...) brucei rhodesiense infection). [ ] Another nonmuscle myosin gene, MYO1E , was recently reported to be associated with FSGS in children. Mutation of the MYO1E gene led to disruption of the podocyte cytoskeleton. [ ] Other genetic forms of nephrotic syndrome continue to shed light on the pathogenesis of INS. Mutations in the developmental regulatory gene WT1 are associated with forms of congenital nephrotic syndrome associated with male pseudohermaphroditism, ( ), and (Frasier syndrome). Mutations

2014 eMedicine Pediatrics

75. Denys-Drash Syndrome (Follow-up)

. A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy. Nephrol Dial Transplant . 2006 Feb. 21(2):518-21. . Swiatecka-Urban A, Mokrzycki MH, Kaskel F, et al. Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. Pediatr Nephrol . 2001 Aug. 16(8):627-30. . Denys P, Malvaux P, Van Den Berghe H, Tanghe W, Proesmans W. [Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY (...) tumor. Pediatr Blood Cancer . 2014 Jan. 61(1):140-4. . Eddy AA, Mauer SM. Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): frequency in end-stage renal failure. J Pediatr . 1985 Apr. 106(4):584-7. . Gessler M, Konig A, Bruns GA. The genomic organization and expression of the WT1 gene. Genomics . 1992 Apr. 12(4):807-13. . Habib R. Nephrotic syndrome in the 1st year of life. Pediatr Nephrol . 1993 Aug. 7(4):347-53. . Habib R, Loirat C, Gubler MC, et al. The nephropathy

2014 eMedicine Pediatrics

76. Pediatric Urologic Gynecology (Treatment)

and gynecologists must be familiar with the more common disorders whereby gender assignment and rearing is along female lines. [ ] These conditions include normal-appearing girls who are genetically male (male pseudohermaphroditism; 46,XY DSD) and genetic females appearing as males (female pseudohermaphroditism; 46,XX DSD). Female pseudohermaphrodites are genetic females (ie, XX karyotype) but may appear as males without testes. The most common cause of female pseudohermaphroditism is (21-hydroxylase deficiency (...) female anatomy is normal. After the diagnosis is established, surgical treatment involves feminizing genitoplasty (eg, reduction clitoroplasty, vaginoplasty, labioplasty). Male pseudohermaphrodites are genetic males (ie, XY karyotype) but may appear as females. Testicular feminization is the most common cause of male pseudohermaphroditism. Testicular feminization results from androgen insensitivity. Suspect the diagnosis in all girls with inguinal hernias. The hernia sacs may be found to contain

2014 eMedicine Pediatrics

77. Panhypopituitarism (Treatment)

. Horm Res Paediatr . 2015. 84 (2):94-101. . Matthai SM, Smith CS. Pituitary hypoplasia associated with a single central maxillary incisor. J Pediatr Endocrinol Metab . 1996 Sep-Oct. 9(5):543-4. . Willnow S, Kiess W, Butenandt O, et al. Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)--evaluation and follow up of 18 patients. Eur J Pediatr . 1996 Mar. 155(3):179-84. . Burgner DP, Kinmond S, Wallace AM, et al. Male pseudohermaphroditism secondary to panhypopituitarism. Arch Dis Child (...) : an update. Pituitary . 2005. 8(3-4):183-91. . Wijnen M, van den Heuvel-Eibrink MM, Janssen JAMJL, et al. Very long-term sequelae of craniopharyngioma. Eur J Endocrinol . 2017 Jun. 176 (6):755-67. . Bettendorf M, Fehn M, Grulich-Henn J, et al. Lymphocytic hypophysitis with central diabetes insipidus and consequent panhypopituitarism preceding a multifocal, intracranial germinoma in a prepubertal girl. Eur J Pediatr . 1999 Apr. 158(4):288-92. . Maghnie M, Genovese E, Sommaruga MG, et al. Evolution

2014 eMedicine Pediatrics

78. 5-Alpha-Reductase Deficiency (Overview)

of is noted. Secondary issues include a risk of if hormone replacement therapy is not initiated in the patient with a gonadectomy. Psychological morbidity is not uncommon, with occasional asynchrony of assigned gender and sexual identity (see Treatment). Sex Clinical 5-alpha-reductase type 2 deficiency is limited to genetic males. Although the enzyme deficiency can be documented in homozygous females, no clinical or developmental need for DHT is documented in women, who are likely asymptomatic. Age Most (...) in newborns. Sex Dev . 2007. 1(3):147-51. . Skordis N, Shammas C, Efstathiou E, Sertedaki A, Neocleous V, Phylactou L. Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea. Hormones (Athens) . 2011 Jul-Sep. 10(3):230-5. . Fénichel P, Paris F, Philibert P, Hiéronimus S, Gaspari L, Kurzenne JY. Molecular diagnosis of 5a-reductase deficiency in 4 elite young female athletes through hormonal screening

2014 eMedicine Pediatrics

79. Microphallus (Treatment)

classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. Am J Med Genet . 1996 May 3. 63(1):223-30. . Palmer JS. Genitourinary manifestations in boys and girls associated with genetic disease. J Men's Health Gend . March 2006. 3(1):71-79. Cassidy SB, Schwartz S. Prader-Willi Syndrome. GeneReviews. Available at . Accessed: 2 July 2011. Waters AM, Beales PL. Bardet-Biedl Syndrome. GeneReviews. Available at . Accessed: 2 July 2011. Allanson JE. Noonan Syndrome. GeneReviews (...) Micropenis during Early Infancy . Horm Res Paediatr . 2017 Jan 12. . Krishnan A, Chagani S, Rohl AJ. Preoperative Testosterone Therapy Prior to Surgical Correction of Hypospadias: A Review of the Literature. Cureus . 2016 Jul 8. 8 (7):e677. . . Calikoglu AS. Should boys with micropenis be reared as girls? [editorial]. J Pediatr . 1999 May. 134(5):537-8. . Wisniewski AB, Migeon CJ, Gearhart JP, et. al. Congenital micropenis: Long-term medical, surgical, and psychosexual follow-up of individuals raised

2014 eMedicine Pediatrics

80. Microphallus (Follow-up)

-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. Clin Endocrinol (Oxf) . 2007 Jul. 67(1):20-8. . Gad YZ, Nasr H, Mazen I. 5 alpha-reductase deficiency in patients with micropenis. J Inherit Metab Dis . 1997 Mar. 20(1):95-101. . Sinnecker GH, Hiort O, Dibbelt L. Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. Am J Med Genet . 1996 May 3. 63(1):223-30. . Palmer JS. Genitourinary manifestations in boys and girls associated with genetic (...) . 2016 Jul 8. 8 (7):e677. . . Calikoglu AS. Should boys with micropenis be reared as girls? [editorial]. J Pediatr . 1999 May. 134(5):537-8. . Wisniewski AB, Migeon CJ, Gearhart JP, et. al. Congenital micropenis: Long-term medical, surgical, and psychosexual follow-up of individuals raised male or female. Hormone Research . 2001. 56:3-11. . Drugs: Testosterone. MD Consult. Available at . Accessed: 2 July 2011. Media Gallery of 0 Tables Contributor Information and Disclosures Author Karen S Vogt, MD

2014 eMedicine Pediatrics

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