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Female Pseudohermaphroditism

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81. Pediatric Urologic Gynecology (Follow-up)

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 (...) in >90%). In this disorder, the absence of 21-hydroxylase results in the overproduction of androgens and results in a wide spectrum of genital abnormalities, ranging from mild masculinization of the clitoris (clitoromegaly; see the image below) to complete masculinization. Female pseudohermaphroditism. Note the clitoromegaly and small introitus. The labioscrotal folds are rugous and hyperpigmented, producing the physical appearance of severe hypospadias with ; however, in all cases, the internal

2014 eMedicine Pediatrics

82. WAGR Syndrome (Overview)

and optic nerve hypoplasia. A wide variety of GU abnormalities are associated with WAGR syndrome; these include , , and renal and ureteral malformations. Streak ovaries and bicornuate uterus have been reported in females with AGR syndrome. The presence of pseudohermaphroditism should alert the clinician to the possibility of , a distinct diagnosis resulting from constitutional WT1 mutations. The cognitive function of patients with WAGR syndrome widely varies. The appearance of retardation is correlated

2014 eMedicine Pediatrics

83. Pediatric Urologic Gynecology (Overview)

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 (...) in >90%). In this disorder, the absence of 21-hydroxylase results in the overproduction of androgens and results in a wide spectrum of genital abnormalities, ranging from mild masculinization of the clitoris (clitoromegaly; see the image below) to complete masculinization. Female pseudohermaphroditism. Note the clitoromegaly and small introitus. The labioscrotal folds are rugous and hyperpigmented, producing the physical appearance of severe hypospadias with ; however, in all cases, the internal

2014 eMedicine Pediatrics

84. Panhypopituitarism (Overview)

shorter and more overweight, had less education, were less likely to be married, and had a higher unemployment rate, lower incomes, and fewer children. They also scored lower on the Female Sexual Function Index and Male Sexual Quotient. [ ] Previous References Kim SY. Diagnosis and Treatment of Hypopituitarism. Endocrinol Metab (Seoul) . 2015 Dec. 30 (4):443-55. . . Gounden V, Jialal I. Hypopituitarism (Panhypopituitarism). 2018 Jan. . . Migliaretti G, Aimaretti G, Borraccino A, et al. Incidence (...) Onset Hypopituitarism. 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

2014 eMedicine Pediatrics

85. Denys-Drash Syndrome (Treatment)

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 mosaicism]. Arch Fr Pediatr . 1967 Aug-Sep. 24(7):729-39. . Yue Z1, Pei Y, Sun L, Huang W, Huang H, Hu B, et al. Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese (...) . 7(10):886-95. . Coppes MJ, Huff V, Pelletier J. Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1. J Pediatr . 1993 Nov. 123(5):673-8. . Dumoucel S, Gauthier-Villars M, Stoppa-Lyonnet D, et al. Malformations, genetic abnormalities, and Wilms 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

2014 eMedicine Pediatrics

86. 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 (...) in >90%). In this disorder, the absence of 21-hydroxylase results in the overproduction of androgens and results in a wide spectrum of genital abnormalities, ranging from mild masculinization of the clitoris (clitoromegaly; see the image below) to complete masculinization. Female pseudohermaphroditism. Note the clitoromegaly and small introitus. The labioscrotal folds are rugous and hyperpigmented, producing the physical appearance of severe hypospadias with ; however, in all cases, the internal

2014 eMedicine Pediatrics

87. 5-Alpha-Reductase Deficiency (Overview)

male external genital anatomy in the fetus. [ ] As with most single enzyme disorders, 5-alpha-reductase type 2 deficiency is autosomal recessive and sex limited because it only causes a clinically significant disorder in genetic males, with very subtle phenotypic changes in homozygous females. See the image below. Biochemical effects of 5-alpha-reductase type 2 deficiency in testosterone biosynthesis. Typically levels of testosterone are elevated, whereas levels of dihydrotestosterone (DHT (...) 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

2014 eMedicine Pediatrics

88. Ambiguous Genitalia and Intersexuality (Overview)

with the disorder. Table 1. Previous Terminology and Revised Nomenclature of Disorders of Sexual Development Previous Revised Female pseudohermaphrodite 46,XX DSD Male pseudohermaphrodite 46,XY DSD True hermaphrodite Ovotesticular DSD XX male 46,XX testicular DSD XY sex reversal 46,XY complete gonadal dysgenesis As examples, classifications of sex chromosome DSD include the following: 45,X ( and variants) 47,XXY ( and variants) 45,X/46,XY (mixed gonadal dysgenesis, ovotesticular DSD) 46,XX/46,XY (chimeric (...) phenotype (46,XX DSD, formerly termed female pseudohermaphroditism). 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. Clinical manifestation of CAH depends on which enzymatic defect is present. CAH presents a spectrum of abnormalities, including the degree of phallic enlargement, the extent of urethral fold fusion, and the size and level of entry of the vagina

2014 eMedicine Pediatrics

89. Gonadoblastoma (Treatment)

as the diagnosis of gonadal dysgenesis is made. [ ] In patients with complete androgen insensitivity and male pseudohermaphroditism (46,XY) with normal phenotypic genitalia, Rutgers and Scully (1991) recommended that gonadectomy be performed after puberty but before the individual is aged 20 years. [ ] This opinion is based on the negligible risk of finding gonadoblastoma in these patients before puberty. However, the overall risk of developing a seminoma/dysgerminoma is 9%; therefore, perform gonadectomy (...) suspicion of an intersex disorder is noted. Often the neonatal anatomy is difficult to diagnose with imaging studies alone, and cystoscopy and vaginoscopy may need to be performed. A consultation with a clinical geneticist can also be useful in patients who do not have a clearly defined genotype. Obtain an endocrinology evaluation to manage life-long hormone replacement needs. Patients with complete androgen insensitivity and male pseudohermaphroditism (46,XY) who receive the diagnosis late (eg, after

2014 eMedicine Pediatrics

90. Denys-Drash Syndrome (Overview)

. [ ] 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

91. 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 (...) 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 Pediatric Endocrinologist, Department of Pediatrics, Division of Endocrinology, Walter Reed National Military Medical Center Karen S Vogt, MD is a member of the following medical societies: , , , Disclosure: Nothing to disclose. Coauthor(s) Michael J Bourgeois, MD Director of Pediatric

2014 eMedicine Pediatrics

92. Nephrotic Syndrome (Overview)

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 (...) is reported in Asian children, (6 times the rate seen in European children). An increased incidence of INS is also seen in Indian, Japanese, and Southwest Asian children. Primary, SSNS is rare in Africa, where nephrotic syndrome is more likely to be secondary or steroid-resistant. These variations in ethnic and geographic distribution of INS underscore the genetic and environmental influences in the development of PNS. [ ] In children younger than 8 years at onset, the ratio of males to females varies

2014 eMedicine Pediatrics

93. Microphallus (Overview)

defects and defects in testosterone biosynthesis (e.g. 17-beta hydroxysteroid dehydrogenase deficiency). [ ] The genitalia of individuals with LH-receptor defects vary from normal female-appearing to male-appearing with micropenis. Individuals with 17-beta hydroxysteroid dehydrogenase deficiency most often have female-appearing genitalia and, less often, ambiguous genitalia. [ ] Defects in peripheral androgen action include (failure of conversion of testosterone to DHT) and partial (PAIS) due (...) to an androgen receptor defect. However, most children with these conditions have varying degrees of incomplete labioscrotal fusion, resulting in hypospadias and genital ambiguity. [ , ] Lastly, genetic syndromes in which micropenis may be a feature include , , and , among others (see Causes). [ , ] Previous Next: Epidemiology Sex By definition, microphallus is an exclusively male condition. However, distinguishing between a male with micropenis and bilateral cryptorchidism and a female with clitoromegaly

2014 eMedicine Pediatrics

94. 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

95. Ovotestis (Diagnosis)

in a 46,XX/46,XY mosaic female with family history of breast cancer. Pathol Int . 1997 Feb-Mar. 47(2-3):147-54. . Chaudhury P, Majmudar B, Moller KA. Invasive squamous cell carcinoma of the vagina in the setting of true hermaphroditism. Gynecol Oncol . 2006 Jan. 100(1):210-2. . Selver Eklioglu B, Atabek ME, Akyurek N, Ari Yuca S, Piskin M. The 46XX Ovotesticular Disorders of Sexual Development with Dismorphic Features. J Pediatr Adolesc Gynecol . 2015 Dec. 28 (6):e157-9. . Ouhilal S, Turco J, Nangia (...) and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine (Baltimore) . 1991 Nov. 70(6):375-83. . Bernard-Gallon DJ, Dechelotte P, Vissac C, et al. BRCA1 and BRCA2 protein expressions in an ovotestis of a 46, XX true hermaphrodite. Breast Cancer Res . 2001. 3(1):61-5. . Burgner DP, Kinmond S, Wallace AM, et al. Male pseudohermaphroditism secondary to panhypopituitarism. Arch Dis Child . - Kinmond S. 75(2):153-5. . Damario MA, Rock JA. Diagnostic

2014 eMedicine.com

96. 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 (...) . Harvey RA, Champe PC, Mycek MJ. Anticancer drugs. Lippincott's Illustrated Reviews: Pharmacology . Baltimore, Md: Lippincott Williams & Wilkins; 1992. 337-360. Kumar, V Abbas AK, Fausto N, Aster J, eds. Female genital tract. Robbins Pathologic Basis of Disease . 8th ed. Elsevier Health Sciences; 2009. Matei DE, Russell AH, Horowitz CJ. Ovarian Germ Gell Tumors. Hoskins WJ, Perez CA, Young RC, Barakat RR, Markman M, Randall ME, eds. Principles and Practice of Gynecologic Oncology . 4th ed

2014 eMedicine.com

97. Teratology and Drug Use During Pregnancy (Diagnosis)

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

98. 5-Alpha-Reductase Deficiency (Diagnosis)

male external genital anatomy in the fetus. [ ] As with most single enzyme disorders, 5-alpha-reductase type 2 deficiency is autosomal recessive and sex limited because it only causes a clinically significant disorder in genetic males, with very subtle phenotypic changes in homozygous females. See the image below. Biochemical effects of 5-alpha-reductase type 2 deficiency in testosterone biosynthesis. Typically levels of testosterone are elevated, whereas levels of dihydrotestosterone (DHT (...) 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

2014 eMedicine Pediatrics

99. Ambiguous Genitalia and Intersexuality (Diagnosis)

with the disorder. Table 1. Previous Terminology and Revised Nomenclature of Disorders of Sexual Development Previous Revised Female pseudohermaphrodite 46,XX DSD Male pseudohermaphrodite 46,XY DSD True hermaphrodite Ovotesticular DSD XX male 46,XX testicular DSD XY sex reversal 46,XY complete gonadal dysgenesis As examples, classifications of sex chromosome DSD include the following: 45,X ( and variants) 47,XXY ( and variants) 45,X/46,XY (mixed gonadal dysgenesis, ovotesticular DSD) 46,XX/46,XY (chimeric (...) phenotype (46,XX DSD, formerly termed female pseudohermaphroditism). 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. Clinical manifestation of CAH depends on which enzymatic defect is present. CAH presents a spectrum of abnormalities, including the degree of phallic enlargement, the extent of urethral fold fusion, and the size and level of entry of the vagina

2014 eMedicine Pediatrics

100. Teratomas and Other Germ Cell Tumors (Overview)

is difficult to generalize. [ ] When platinum-based chemotherapy–resistant tumors are evaluated, between one third and one half of tumors exhibit microsatellite instability. Previous Next: Etiology With sacrococcygeal teratomas, no causative agents are known. With respect to ovarian germ cell tumors, a familial predilection may be present. Cases in seven families have been reported in which female first-degree relatives had germ cell tumors. In an additional seven families, males had germ cell tumors (...) . Children with DSDs are typically male pseudohermaphrodites with antigen insensitivity or 5-alpha reductase deficiency. These patients with testicular feminization are sometimes discovered serendipitously during a hernia repair. Optimal timing for gonadal resection in these situations is a matter of debate. Gonadal estrogen production may benefit the patient in terms of growth and development. However, gonadoblastoma has been observed in patients as young as 2 months, and frank tumors have been observed

2014 eMedicine Pediatrics

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