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Female Pseudohermaphroditism

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101. 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 (...) puberty when they present with primary amenorrhea. Second, intra-abdominal testicular tissue allows for normal breast development, which allows these phenotypic (46,XY) girls to go through "normal" puberty. This mechanism is initiated when the pituitary release of gonadotropic hormones stimulates the production of testosterone by the testes. Being completely androgen insensitive, the ability to recognize the elevated testosterone concentration does not exist, and the biofeedback mechanism fails

2014 eMedicine Pediatrics

102. Microphallus (Overview)

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

103. 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

104. 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

105. 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

106. 5-Alpha-Reductase Deficiency (Treatment)

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 (...) , a third gender is not accepted, suggesting that a decision for gender assignment should occur before the patient is able to make an individual choice. Although gender assignment in the newborn period may not be ideal, this well-intended, and perhaps justifiable approach is undertaken due to social as well as developmental concerns because children typically develop a sense of gender identity by age 3 years. Proponents of early surgery for female gender assignment suggest that early gonadectomy

2014 eMedicine Pediatrics

107. Ambiguous Genitalia and Intersexuality (Treatment)

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

108. Panhypopituitarism (Follow-up)

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 . 1996 Aug. 75(2):153-5. . Setian N, Aquiar CH, Galvao JA. Rathke's cleft cyst (...) 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 of childhood central diabetes insipidus into panhypopituitarism with a large hypothalamic mass

2014 eMedicine Pediatrics

109. 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 (...) 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

110. 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

111. THE INTERSEXED PATIENT Full Text available with Trip Pro

present.A case history of a middle-aged pseudohermaphrodite, castrated in youth but raised from birth as a female and living thus in "homosexual" relations with women until examined and interviewed at UCLA Medical Center is presented to illustrate the psychological problems in sexual identity with which the patient had to cope. Psychiatric investigation revealed how confused the patient's sex identity was until treatment by a team consisting of psychiatrist, psychologist and endocrinologist permitted (...) the patient, even at so late a date, finally to establish what his gender is. The patient was able, despite early rearing as a female and a castrating operation, to swing to a more masculine identification. This was possible because of some uncertainty of sexual role from an early age.

1959 California Medicine

112. The Child with Ambiguous Genitalia: A Neonatal Surgical Emergency Full Text available with Trip Pro

females with virilizing adreno-genital syndrome, three infants with mixed gonadal dysgenesis, two infants with dysgenetic male pseudohermaphroditism, two males with severe perineal hypospadias, bifid scrotum, and undescended testicles, and two females with cloacal deformities. Precise diagnosis and most importantly proper gender assignments were made in 11 neonates by cytogenetic, biochemical, and miniaturized endoscopic techniques. Subsequent surgical reconstruction is governed by existing anatomy (...) , not genetic sex, and has been completed in six children two to two and half years of age. Most are reconstructed as females with recession of the enlarged clitoris and vaginoplasty. Males with hypospadias are handled by standard techniques. Seven previously evaluated patients had been lost to follow-up for up to 13 years and were recently reconstructed. Surgical treatment in five older children with extreme virilization and moderate to severe gender confusion was technically successful but associated

1977 Annals of Surgery

113. Testicular Feminization Associated with a Thermolabile Androgen Receptor in Cultured Human Fibroblasts Full Text available with Trip Pro

with a female phenotype (complete and incomplete testicular feminization) fell from half-normal levels at the usual assay temperature of 37 degrees C to levels <20% of normal when cells were incubated at 42 degrees C. This thermal inactivation was rapidly reversed when the assay temperature was lowered to 37 degrees C, was not associated with altered dihydrotestosterone metabolism, and was also demonstrable with [(3)H]methyltrienolone as the binding ligand. Binding increased to overlap the normal range when (...) the assay temperature was lowered to 26 degrees C. The patients with receptor-deficient testicular feminization include three pairs of siblings; the pedigrees in two of these families are compatible with X-linkage. Only minor changes in the amount of binding at elevated temperatures were observed in cells from 10 control subjects and from 2 male pseudohermaphrodites with normal levels of androgen receptors. In 10 patients with androgen resistance and partial receptor deficiency associated

1979 Journal of Clinical Investigation

114. Drugs in Pregnancy

analgesics to supplement maintenance dosing during labor and delivery Retinoids Isotretinoin High teratogenic risk (eg, multiple congenital malformations), spontaneous abortion, and intellectual disability Contraindicated during pregnancy and in women who may become pregnant Sex hormones Danazol When these drugs are given during the first 14 wk, masculinization of a female fetus’s genitals (eg, pseudohermaphroditism) Contraindicated during pregnancy Synthetic progestins (but not the low doses used (...) relevant to the use of the drug in pregnant women (eg, dosing, fetal risks) and information about whether there is a registry that collects and maintains data on how pregnant women are affected by the drug Lactation: Information about using the drug while breastfeeding (eg, the amount of drug in breast milk, potential effects on the breastfed child) Females and males of reproductive potential: Information about pregnancy testing, contraception, and infertility as it relates to the drug The pregnancy

2013 Merck Manual (19th Edition)

115. Amenorrhea

abnormalities, such as endometrial scarring after instrumentation for postpartum hemorrhage or infection (Asherman syndrome), cause secondary ovulatory amenorrhea. Evaluation Girls are evaluated if They have no signs of puberty (eg, breast development, growth spurt) by age 13. Pubic hair is absent at age 14. Menarche has not occurred by age 16 or by 2 yr after the onset of puberty (development of secondary sexual characteristics). Women of reproductive age should have a pregnancy test after missing one (...) Virilization 17-Hydroxylase deficiency Polycystic ovary syndrome Lesions Pelvic mass (unilateral) Pelvic pain Intraperitoneal tumors or abscesses Bowel obstruction Endometriomas Enlarged kidney Pelvic kidney Pelvic tumors Structural pelvic abnormalities Volvulus Testing History and physical examination help direct testing. If girls have secondary sexual characteristics, a pregnancy test should be done to exclude pregnancy and gestational trophoblastic disease as a cause of amenorrhea. Women of reproductive

2013 Merck Manual (19th Edition)

116. An SNP-Based Linkage Map for Zebrafish Reveals Sex Determination Loci Full Text available with Trip Pro

gene in sex determination from fruit flies to humans; mutation of the human DMRT1 ortholog is a cause of complete sex reversal of XY individuals. The chromosome 16 locus harbors cyp21a2; mutation of the human CYP21A2 ortholog is one of the more common causes of pseudohermaphroditism. Mutation detection at each of these candidate genes within the zebrafish cross identified hypomorphic variants on the female-associated allele of each locus. The two loci together accounted for 16% of variance

2011 G3: Genes|Genomes|Genetics

117. Anabolic steroid Full Text available with Trip Pro

. Adverse effects [ ] Known possible of AAS include: / : , , , , (due to rapid ), (excessive body hair growth), (pattern hair loss; scalp baldness), / . / : changes, reversible , . Male-specific: , , , , (mostly only with and hence AAS), / , , , , . Female-specific: , irreversible , (excessive facial/body hair growth), (e.g., , , , ), , , , (in female ). Child-specific: premature and associated , in boys, and in girls. / : , , , , / , / , , , , , , , , , , , . : , , , . : (e.g., increased levels (...) on the length of use, the side effects of the steroid can be irreversible. Processes affected include pubertal growth, oil production, and sexuality (especially in fetal development). Some examples of virilizing effects are in females and the in male children (the adult penis size does not change due to steroids [ ] ), increased size, increased , suppression of , and impaired . Effects on women include deepening of the voice, facial hair growth, and possibly a decrease in breast size. Men may develop

2012 Wikipedia

118. Intersex

involve genital ambiguity, and combinations of chromosomal and sexual other than . Intersex people were previously referred to as or "congenital eunuchs". In 19th and 20th century medical literature, intersex was referred as , female , and male pseudohermaphroditism reflecting the first efforts to classify intersex conditions. These terms are no longer used: terms including the word " " are considered to be misleading, stigmatizing, and scientifically specious. A hermaphrodite is now defined (...) , the existence of intersex people was known to many ancient and pre-modern cultures. The Greek historian wrote of "hermaphroditus" in the first century BCE that Hermaphroditus "is born with a physical body which is a combination of that of a man and that of a woman", and with supernatural properties. , The First Part of the (1st ed, 1628, title page) In European societies, , post-classical , and later , referred to a person's sex as male, female or hermaphrodite, with legal rights as male or female depending

2012 Wikipedia

119. Partial androgen insensitivity syndrome

traumatization is rising. Sex assignment [ ] The decision of whether to raise an individual with PAIS as a boy or a girl may not be obvious; grades 3 and 4 in particular present with a that may be difficult to classify as primarily male or female, and some will be incapable of at . Parents of an affected newborn should seek immediate help at a center with an experienced multidisciplinary team, and should avoid beforehand. Older guidelines from 2006 advised against waiting for the child to decide (...) with a short vagina in adulthood, and participating physicians gave a lower rating to the surgical results of the men than the women. Both male and female participants cited the appearance of their genitalia as being the greatest contributing factor to their dissatisfaction with their . In two larger studies, the common predictor of gender reassignment was related to having an condition. The outcome of is dependent on the amount of and the extent of . Procedures include correction of and , reconstruction

2012 Wikipedia

120. Progestin-induced virilisation

females normally with normal , there is almost total regression of the genital anomaly in cases of simple clitoral enlargement, and in even the most severe cases, correction of labioscrotal fusion is relatively simple. Contents Dosage [ ] The incidence of fetal masculinization of female external genitalia varies with the drug and dosage. Androgens [ ] The only currently utilized in women that can cause virilization of female fetuses when administered in usually administered doses is the androgen (...) and 1990, the manufacturer of Danocrine, , received reports worldwide of 129 pregnant women exposed to danazol, with 94 completed pregnancies and the birth of 57 female infants – 23 (40%) of whom were virilized with a pattern of clitoromegaly, fused labia and urogenital sinus formation, with genital reconstructive surgery usually, but not always, required in childhood. It is likely that the true rate of occurrence is much less than 40%, as many cases with a normal outcome would not be reported

2012 Wikipedia

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