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Female Pseudohermaphroditism

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81. 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

82. 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 (...) 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

83. 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 (...) . 253(5):1004-10. . Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, et al. Sustained endocrine profiles of a girl with WAGR syndrome. BMC Med Genet . 2017 Oct 23. 18 (1):117. . Beckwith JB. Precursor lesions of Wilms tumor: clinical and biological impications. Med Pediatr Oncol . 1993. 21:158-168. Fischbach BV, Trout KL, Lewis J. WAGR syndrome: A clinical review of 54 cases. Pediatrics . Oct 2005. 116:984-988. Dahan K, Kamal M, Noel LH, et al. Small glomeruli in WAGR syndrome (Wilms

2014 eMedicine Pediatrics

84. 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

85. 5-Alpha-Reductase Deficiency (Diagnosis)

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

86. 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

87. Sexuality: Gender Identity (Follow-up)

. Either of the following must be present: (1) preoccupation with stereotypic female activities, as shown by a preference for either cross-dressing or simulating female attire or by an intense desire to participate in the games and pastimes of girls and rejection of stereotypical male toys, games, and activities; (2) persistent repudiation of male anatomical structures, as indicated by at least one of the following repeated assertions: that he will grow up to become a woman (not merely in role (...) rough-and-tumble activities, often involving physical aggression. Conversely, girls have been thought to prefer quieter activities, with greater reliance on fantasy and imagined situations. Research by Money, among others, seems to indicate that these assumptions are largely true in the examination of school-aged children. The school environment often serves as a model for society, and ascription to either a male or a female gender role is often presented there, as well as at home. In recent years

2014 eMedicine Pediatrics

88. Primary Generalized Glucocorticoid Resistance (Diagnosis)

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 abnormal interactions with p160 steroid receptor coactivators. J Clin Endocrinol Metab (...) seizures during the course of a febrile illness [ ] ; in a newborn baby with severe hypoglycemia, excessive fatigability with feeding, increased susceptibility to infections, and concurrent growth hormone deficiency [ ] ; and in several adult patients with chronic fatigue. [ , , ] Clinical manifestations of mineralocorticoid excess include hypertension and hypokalemic alkalosis. Clinical manifestations of androgen excess include ambiguous genitalia in a karyotypic female at birth and gonadotropin

2014 eMedicine Pediatrics

89. Primary Generalized Glucocorticoid Resistance (Overview)

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 abnormal interactions with p160 steroid receptor coactivators. J Clin Endocrinol Metab (...) seizures during the course of a febrile illness [ ] ; in a newborn baby with severe hypoglycemia, excessive fatigability with feeding, increased susceptibility to infections, and concurrent growth hormone deficiency [ ] ; and in several adult patients with chronic fatigue. [ , , ] Clinical manifestations of mineralocorticoid excess include hypertension and hypokalemic alkalosis. Clinical manifestations of androgen excess include ambiguous genitalia in a karyotypic female at birth and gonadotropin

2014 eMedicine Pediatrics

90. Sexuality: Gender Identity (Overview)

. Either of the following must be present: (1) preoccupation with stereotypic female activities, as shown by a preference for either cross-dressing or simulating female attire or by an intense desire to participate in the games and pastimes of girls and rejection of stereotypical male toys, games, and activities; (2) persistent repudiation of male anatomical structures, as indicated by at least one of the following repeated assertions: that he will grow up to become a woman (not merely in role (...) rough-and-tumble activities, often involving physical aggression. Conversely, girls have been thought to prefer quieter activities, with greater reliance on fantasy and imagined situations. Research by Money, among others, seems to indicate that these assumptions are largely true in the examination of school-aged children. The school environment often serves as a model for society, and ascription to either a male or a female gender role is often presented there, as well as at home. In recent years

2014 eMedicine Pediatrics

91. WAGR Syndrome (Diagnosis)

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 (...) . 253(5):1004-10. . Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, et al. Sustained endocrine profiles of a girl with WAGR syndrome. BMC Med Genet . 2017 Oct 23. 18 (1):117. . Beckwith JB. Precursor lesions of Wilms tumor: clinical and biological impications. Med Pediatr Oncol . 1993. 21:158-168. Fischbach BV, Trout KL, Lewis J. WAGR syndrome: A clinical review of 54 cases. Pediatrics . Oct 2005. 116:984-988. Dahan K, Kamal M, Noel LH, et al. Small glomeruli in WAGR syndrome (Wilms

2014 eMedicine Pediatrics

92. Teratomas and Other Germ Cell Tumors (Diagnosis)

% are malignant. After that age, the risk of malignancy increases greatly, exceeding 50% by age 1 year. Sacrococcygeal teratoma in a female neonate. This particular tumor is largely external with no intrapelvic extension. Ovarian tumors The incidence of ovarian germ cell tumors (see the image below) increases with age and peaks around age 15-19 years. When girls younger than 15 years were examined, fewer than 10% of tumors occurred in girls younger than 5 years, 20% were found in girls aged 5-9 years (...) . 2015 Jun. 137 (3):418-22. . Kollmannsberger C, Schleucher N, Rick O, et al. Analysis of salvage treatments for germ cell cancer patients who have relapsed after primary high-dose chemotherapy plus autologous stem cell support. Eur J Cancer . 2003 Apr. 39(6):775-82. . Media Gallery Sacrococcygeal teratoma in a female neonate. This particular tumor is largely external with no intrapelvic extension. This is an ovarian mixed germ cell tumor in a 13-year-old girl. This tumor caused right lower quadrant

2014 eMedicine Pediatrics

93. Ambiguous Genitalia and Intersexuality (Follow-up)

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 Contributor Information and Disclosures Author Joel Hutcheson, MD Consulting Staff, Departments of Surgery and Urology, Pediatric Surgical Associates Joel Hutcheson, MD is a member of the following medical societies: , Disclosure (...) undergo hormonal imprinting in utero. Various activists and some health care professionals have called for a moratorium on gender reassignment and genital surgery until studies have been completed on the long-term effects of such surgery. Several long-term follow-up studies are being conducted, including a study by the North American Task Force on Intersexuality. Many health care professionals oppose the proposed moratorium. In a virilized female, the surgical procedure is termed feminizing

2014 eMedicine Pediatrics

94. 5-Alpha-Reductase Deficiency (Follow-up)

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 (...) , Khurana ML, et al. Gender identity of children and young adults with 5alpha-reductase deficiency. J Pediatr Endocrinol Metab . 2008 Feb. 21(2):173-9. . Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P. Phenotypical, biological, and molecular heterogeneity of 5a-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab . 2011 Feb. 96(2):296-307. . Katz MD, Cai LQ, Zhu YS, et al. The biochemical and phenotypic characterization of females

2014 eMedicine Pediatrics

95. Teratomas and Other Germ Cell Tumors (Overview)

% are malignant. After that age, the risk of malignancy increases greatly, exceeding 50% by age 1 year. Sacrococcygeal teratoma in a female neonate. This particular tumor is largely external with no intrapelvic extension. Ovarian tumors The incidence of ovarian germ cell tumors (see the image below) increases with age and peaks around age 15-19 years. When girls younger than 15 years were examined, fewer than 10% of tumors occurred in girls younger than 5 years, 20% were found in girls aged 5-9 years (...) . 2015 Jun. 137 (3):418-22. . Kollmannsberger C, Schleucher N, Rick O, et al. Analysis of salvage treatments for germ cell cancer patients who have relapsed after primary high-dose chemotherapy plus autologous stem cell support. Eur J Cancer . 2003 Apr. 39(6):775-82. . Media Gallery Sacrococcygeal teratoma in a female neonate. This particular tumor is largely external with no intrapelvic extension. This is an ovarian mixed germ cell tumor in a 13-year-old girl. This tumor caused right lower quadrant

2014 eMedicine Pediatrics

96. Sexuality: Gender Identity (Diagnosis)

. Either of the following must be present: (1) preoccupation with stereotypic female activities, as shown by a preference for either cross-dressing or simulating female attire or by an intense desire to participate in the games and pastimes of girls and rejection of stereotypical male toys, games, and activities; (2) persistent repudiation of male anatomical structures, as indicated by at least one of the following repeated assertions: that he will grow up to become a woman (not merely in role (...) rough-and-tumble activities, often involving physical aggression. Conversely, girls have been thought to prefer quieter activities, with greater reliance on fantasy and imagined situations. Research by Money, among others, seems to indicate that these assumptions are largely true in the examination of school-aged children. The school environment often serves as a model for society, and ascription to either a male or a female gender role is often presented there, as well as at home. In recent years

2014 eMedicine Pediatrics

97. Nephrotic Syndrome (Diagnosis)

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

98. Pediatric Urologic Gynecology (Diagnosis)

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

99. Panhypopituitarism (Diagnosis)

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

100. Microphallus (Diagnosis)

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 (...) 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

2014 eMedicine Pediatrics

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