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Female Pseudohermaphroditism

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101. 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

102. 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

103. 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

104. 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

2014 eMedicine Pediatrics

105. Adrenal Disease and Pregnancy (Treatment)

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


106. An SNP-Based Linkage Map for Zebrafish Reveals Sex Determination Loci (PubMed)

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

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2011 G3: Genes|Genomes|Genetics

107. The Child with Ambiguous Genitalia: A Neonatal Surgical Emergency (PubMed)

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

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1977 Annals of Surgery


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.

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1959 California Medicine

109. Testicular Feminization Associated with a Thermolabile Androgen Receptor in Cultured Human Fibroblasts (PubMed)

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

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1979 Journal of Clinical Investigation

110. 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)

111. Amenorrhea

of the following is the most common cause of abnormal vaginal bleeding during the reproductive years? Anovulatory uterine bleeding Fibroids Polycystic ovary syndrome Polyps of the cervix NEWS & VIDEOS Menopause Symptoms Linked to Chronic Pain in Midlife THURSDAY, March 7, 2019 (HealthDay News) -- Menopause symptoms are associated with chronic pain among midlife female veterans, according to a study published online March 4 in Menopause . ... 3D Model Vaginal Birth Video How to do and Repair an Episiotomy (...) (usually ovarian or adrenal) † Tumors producing estrogens or tumors producing human chorionic gonadotropin (gestational trophoblastic disease) *Hyperprolactinemia due to other conditions (eg, hypothyroidism, use of certain drugs) may also cause amenorrhea. † Females with these disorders may have virilization or ambiguous genitals. ‡ Virilization may occur in Cushing syndrome secondary to an adrenal tumor. Ovulatory amenorrhea The most common causes (see Table: ) include Chromosomal abnormalities

2013 Merck Manual (19th Edition)

112. Partial androgen insensitivity syndrome

in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study". Lancet . 361 (9365): 1252–7. : . . ^ Meyer-Bahlburg HF (October 1999). "Gender assignment and reassignment in 46,XY pseudohermaphroditism and related conditions". J. Clin. Endocrinol. Metab . 84 (10): 3455–8. : . . Goy RW, Bercovitch FB, McBrair MC (December 1988). "Behavioral masculinization is independent of genital masculinization in prenatally androgenized female rhesus macaques". Horm Behav . 22 (4): 552–71 (...) of the to respond to . It is a X linked recessive condition.The partial unresponsiveness of the cell to the presence of androgenic hormones impairs the in the developing fetus, as well as the development of male at , but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is clinically significant only when it occurs in genetic males (i.e. individuals with a , or more specifically, an ). Clinical features include ambiguous genitalia at birth and primary

2012 Wikipedia

113. Progestin-induced virilisation

. pp. 281–357. . (2007). . search: Danocrine Duck SC, Katayama KP (February 1981). "Danazol may cause female pseudohermaphroditism". Fertil Steril . 35 (2): 230–1. : . . Brunskill PJ (February 1992). "The effects of fetal exposure to danazol". Br J Obstet Gynaecol . 99 (3): 212–5. : . . Physicians' Desk Reference (46th ed.). Montvale, NJ: Medical Economics. 1992. pp. 2046–7. . Lasser KE, Allen PD, Woolhandler SJ, Himmelstein DU, Wolfe SM, Bor DH (May 1, 2002). "Timing of new black box warnings (...) the 12th week. This can in some cases result in . Fetal masculinization of female external genitalia is usually due to enzyme abnormalities involved in , resulting in (CAH); fetal masculinization of female external genitalia is much less frequently due to maternal use of androgenic steroids. Fetal masculinization of female external genitalia due to maternal use of androgenic steroids is generally less advanced than that due to CAH, and unlike CAH, does not cause progressive virilization. Affected

2012 Wikipedia

114. 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 (...) " was used synonymously with "intersex". The distinctions "male pseudohermaphrodite", "female pseudohermaphrodite" and especially " " are terms no longer used, which reflected (microscopic appearance) of the . Medical terminology has shifted not only due to concerns about language, but also a shift to understandings based on . Currently, hermaphroditism is not to be confused with intersex, as the former refers only to a specific phenotypical presentation of sex organs and the latter to a more complex

2012 Wikipedia

115. Anabolic steroid

of most sports. AAS use occurs among adolescents, especially by those participating in competitive sports. It has been suggested that the prevalence of use among high-school students in the U.S. may be as high as 2.7%. Male students used AAS more frequently than female students and, on average, those that participated in sports used steroids more often than those that did not. Available forms [ ] See also: The AAS that have been used most commonly in medicine are and its many (but most typically (...) . 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

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2012 Wikipedia

116. Androgen insensitivity syndrome

Octavius , 1709. Pseudohermaphroditism [ ] " " has, until very recently, been the term used in the medical literature to describe the condition of an individual whose gonads and karyotype do not match the external genitalia in the sense. For example, 46,XY individuals who have a female phenotype, but also have testes instead of ovaries — a group that includes all individuals with CAIS, as well as some individuals with PAIS — are classified as having "male pseudohermaphroditism", while individuals (...) the "perceived" sex of an individual. German-Swiss pathologist is sometimes noted for using the word "pseudohermaphroditism" in his taxonomy of in 1876, although the word is clearly not his invention as is sometimes reported; the history of the word " " and the corresponding desire to separate from "false", "spurious", or "pseudo" hermaphrodites, dates back to at least 1709, when Dutch used it in a publication describing a subject with testes and a mostly female phenotype. "Pseudohermaphrodite" also appeared

2012 Wikipedia

117. Complete androgen insensitivity syndrome

of the to respond to . As such, the insensitivity to androgens is only clinically significant when it occurs in genetic males (i.e. individuals with a , or more specifically, an ). The unresponsiveness of the cell to the presence of androgenic hormones prevents the in the developing fetus, as well as the development of male at , but does allow, without significant impairment, female genital and sexual development in genetic males with the condition. All human fetuses, whether genetic males or females, begin (...) fetal development looking similar, with both the system (female) and the system (male) developing. It is at the seventh week of that the bodies of unaffected genetic males begin their masculinization: i.e, the system is promoted and the system is suppressed (the reverse happens with normal females). This process is triggered by androgens produced by the , which in genetic females had earlier become ovaries, but in genetic males had become due to the presence of the Y Chromosome. The cells

2012 Wikipedia

118. Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. (PubMed)

Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. Male pseudohermaphroditism, or Leydig cell hypoplasia (LCH), is an autosomal recessive disorder in individuals with a 46,XY karyotype, characterized by a predominantly female phenotype, a blind-ending vagina, absence of breast development, primary amenorrhea, and the presence of testicular structures. It is caused by mutations in the luteinizing hormone/chorionic

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2008 PLoS medicine

119. Boy born after gender preselection following successive gestational androgen excess of maternal luteoma and female disorders of sex development. (PubMed)

Boy born after gender preselection following successive gestational androgen excess of maternal luteoma and female disorders of sex development. To present male gender preselection after successive gestational hyperandrogenism and female pseudohermaphroditism by pregnancy luteomas.Case report.University-based teaching hospital.We describe herein a gravida who presented two successive 46, XX disorders of sex development with apparent female genitalia with an enlarged clitoris due to maternal (...) gender preselection for intrauterine insemination and cesarean section.Healthy boy born without disorder of sex development after antenatal maternal androgen excess of ovarian luteoma.Successive pregnancy luteomas associated with maternal hyperandrogenism may cause female disorders of sex development. Male preselection ameliorates the insult of external genitalia ambiguity by antenatal androgen excess in this matter of concern.

2008 Fertility and Sterility

120. CAH (congenital adrenal hyperplasia)

: with male pseudohermaphrodite include 21alpha-hydroxylase and to a lesser extent 11-beta-hydroxylase with female pseudohermaphrodite include 17alpha-hydroxylase, 17,20 lyase, 3beta-hydroxysteroid dehydrogenase, and cholesterol 20,22 desmolase; while CAH forms which are associated with hypertension include 17alpha-hydroxylase and 11beta-hydroxylase deficiency (2) Reference: Ogilvy-Stuart A.Endocrinology of the neonate, BJHM 1995;54(5): 207-11. Honour JW. Diagnosis of diseases of steroid hormone

2010 GP Notebook

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