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160 results for

Female Pseudohermaphroditism

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121. Penislike clitorises with megalourethras in nonvirilized female fetuses and a newborn. A histopathologic study and its bearing on their pathogenesis. (Abstract)

Penislike clitorises with megalourethras in nonvirilized female fetuses and a newborn. A histopathologic study and its bearing on their pathogenesis. The aim of the study was to analyze the microstructure of penislike clitorises in female pseudohermaphroditism in relation to their pathogenesis.Penislike clitorises from 2 fetuses and 1 newborn with anorectal malformations and multiple other caudal anomalies and 1 fetus with phallic urethra duplication were histologically examined in toto.The (...) in the fourth specimen.Penislike clitorises in female pseudohermaphroditism show a fundamental dysgenesis of major structural elements. The pattern favors the hypothesis of an early error in the formation of the cloacal membrane and adjacent cloaca in embryos between 26 and 29 days postovulation that may lead to dysregulation of molecular developmental interactions during the following formation of the genital tubercle.

2009 Journal of Pediatric Surgery

122. 21-hydroxylase deficiency

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 production, metabolism and action. J (...) from the enzyme deficiency: deficient cortisol and/or aldosterone production excess precursor steroids In response, there is increased ACTH secretion from the anterior pituitary producing adrenocortical hyperplasia. At least eight distinctive clinical syndromes are recognised but the majority of cases are attributed to: 21-hydroxylase deficiency (approximately 95%) 11-beta-hydroxylase deficiency (approximately 5%) The deficiency forms of CAH which are associated: with male pseudohermaphrodite

2010 GP Notebook

123. adrenal hyperplasia (congenital)

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 production, metabolism

2010 GP Notebook

124. congenital adrenal hyperplasia

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 production, metabolism

2010 GP Notebook

125. 11-beta-hydroxylase deficiency

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 production, metabolism

2010 GP Notebook

126. 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

127. adrenogenital syndrome

-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 production, metabolism and action. J Clin Res Pediatr (...) the enzyme deficiency: deficient cortisol and/or aldosterone production excess precursor steroids In response, there is increased ACTH secretion from the anterior pituitary producing adrenocortical hyperplasia. At least eight distinctive clinical syndromes are recognised but the majority of cases are attributed to: 21-hydroxylase deficiency (approximately 95%) 11-beta-hydroxylase deficiency (approximately 5%) The deficiency forms of CAH which are associated: with male pseudohermaphrodite include 21alpha

2010 GP Notebook

129. Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency

: National Taiwan University Hospital Information provided by: National Taiwan University Hospital Study Details Study Description Go to Brief Summary: To disclose the molecular pathology of our 3 families with 17βHSD3 deficiency. Condition or disease Intervention/treatment Pseudohermaphroditism Procedure: blood drawing Detailed Description: 17βhydroxysteroid dehydrogenase 3 (17βHSD3) deficiency is a rare cause of male pseudohermaphroditism. The incidence is reported to be 1: 147,000 in the Netherlands (...) . Fewer than one hundred affected 46, XY males were reported in the literature, and no such case has been reported in Taiwan before. The 46, XY patients have ambiguious or complete female external genitalia. They are mostly unrecognized at birth and reared as female. They often draw medical attention when they receive operation for inguinal hernia or during puberty, clitoromegaly and musculization were noticed. However, the homozygous or compound heterozygous genetic females are asymptomatic

2005 Clinical Trials

130. Uterine adenosarcoma in a boy with persistent müllerian duct syndrome: first reported case. (Abstract)

Uterine adenosarcoma in a boy with persistent müllerian duct syndrome: first reported case. Persistent müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism. Bilateral fallopian tubes and a uterus occur with an otherwise normal male phenotype. Testicular neoplasm in PMDS has been reported, but malignant degeneration of the remnant female genitalia has only once been reported. We present imaging, surgical specimen, and surgical pathology of the first documented case

2005 Journal of Pediatric Surgery

131. Ambiguous genitalia: an overview of 17 years' experience. (Abstract)

, and outcome were recorded.The intersex committee's decision concerning sex assignment was female for 62 children (75%) and male for 23 children (25%). The etiologies of children reared as female were congenital adrenal hyperplasia (n = 37), male pseudohermaphroditism (n = 12), mixed gonadal dysgenesis (n = 6), true hermaphroditism (n = 4), and Mayer-Rokitansky syndrome (n = 3). Fifteen children with male pseudohermaphroditism, 5 children with congenital adrenal hyperplasia, and 3 children with true

2007 Journal of Pediatric Surgery

132. Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. Full Text available with Trip Pro

Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. P450c17 deficiency (17OHD), caused by mutation in CYP17A1 gene, is characterized by severe hypertension-hypokalemia, sexual infantilism in females, and pseudohermaphroditism in males. We investigated eight Chinese 17OHD patients with five novel mutations of CYP17A1 gene and analyzed phenotype-genotype correlation in a patient with regular menses

2006 Journal of Clinical Endocrinology and Metabolism

133. Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Full Text available with Trip Pro

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor (WT). Most mutations (...) in DDS patients lie in exon 8 or exon 9, encoding zinc finger 2 or zinc finger 3, respectively, with a hot spot (R394W) in exon 9. We analyzed a series of 24 patients, 10 with isolated DMS (IDMS), 10 with DDS, and 4 with urogenital abnormalities and/or WT. We report WT1 heterozygous mutations in 16 patients, 4 of whom presented with IDMS. One male and two female IDMS patients with WT1 mutations underwent normal puberty. Two mutations associated with IDMS are different from those described in DDS

1998 American Journal of Human Genetics

134. Experience of Laparoscopic Exploration and Gonadectomy in lntersex Children Full Text available with Trip Pro

1) underwent open abdominal exploration together with gonadectomy, while the latter 7 cases (group 2) underwent laparoscopic exploration simultaneously with 3 laparoscopic gonadectomy and 1 open one via a inguinal incision. Their final diagnoses were male pseudohermaphroditism in 4 cases, mixed gonadal dysgenesis in 3, true hermaphroditism in 2, XX gonadal dysgenesis in 1, and XY gonadal dysgenesis in 1. Consequently, 2 of initial male were reared as a female. Operation time, use of analgesics (...) Experience of Laparoscopic Exploration and Gonadectomy in lntersex Children The use of laparoscopic technique to diagnose and treat intersex children is gradually introduced in clinical urology. From 1985 to 1996, abdominal exploration and gonadectomy were performed in 11 intersex children together with urogenital endoscopy and genitoplastic surgery in our institutes. Their median age was 6.0 (range 0-15) years old and initial gender sex was female in 8 and male in 3. The initial 4 cases (group

1998 Diagnostic and therapeutic endoscopy

135. Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression. Full Text available with Trip Pro

Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression. The synthesis of dihydrotestosterone is catalyzed by steroid 5 alpha-reductase isozymes, designated types 1 and 2. Mutation of type 2 results in male pseudohermaphroditism, in which the external genitalia are phenotypically female at birth. Two striking and unexplained features of this disorder are that external genitalia of affected males undergo virilization during puberty and that these individuals have less

1993 Journal of Clinical Investigation

136. Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase. Full Text available with Trip Pro

Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase. The enzyme steroid 5 alpha-reductase catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone, and impairment of this reaction causes a form of male pseudohermaphroditism in which genetic males differentiate predominantly as phenotypic females. We previously isolated cDNA clones that encode a human steroid 5 alpha-reductase enzyme. Here, we report molecular and genetic

1992 Journal of Clinical Investigation

137. Intersexes in swine: a problem in descriptive anatomy. Full Text available with Trip Pro

Intersexes in swine: a problem in descriptive anatomy. Accurate anatomical descriptions of ten intersex pigs were compiled through dissection and histological examination in order to identify specific groups of reproductive anomalies. Six different anatomical phenotypes were identified: four varieties of male pseudohermaphrodite, one type of female pseudohermaphrodite and one type of true hermaphrodite. The intersex phenomenon is complicated by the number of distinct anatomical phenotypes

1984 Canadian Journal of Comparative Medicine

138. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. Full Text available with Trip Pro

Molecular genetics of steroid 5 alpha-reductase 2 deficiency. Two isozymes of steroid 5 alpha-reductase encoded by separate loci catalyze the conversion of testosterone to dihydrotestosterone. Inherited defects in the type 2 isozyme lead to male pseudohermaphroditism in which affected males have a normal internal urogenital tract but external genitalia resembling those of a female. The 5 alpha-reductase type 2 gene (gene symbol SRD5A2) was cloned and shown to contain five exons and four introns

1992 Journal of Clinical Investigation

139. Early diagnosis and management of 5 alpha-reductase deficiency. Full Text available with Trip Pro

Early diagnosis and management of 5 alpha-reductase deficiency. Two siblings of Pakistani origin, karyotype 46 XY, were born with predominantly female external genitalia with minute phallus, bifid scrotum, urogenital sinus, and palpable gonads. The older sibling at the age of 8 days showed an adequate testosterone response to human chorionic gonadotrophin (hCG) stimulation. The diagnosis of 5 alpha-reductase deficiency was made at age 6 years when no 5 alpha-reduced glucocorticoid metabolites (...) months. Topical DHT cream application to the external genitalia promoted significant phallic growth in both siblings and in the older sibling corrective surgery was facilitated. In prepubertal male pseudohermaphrodites with normal or raised testosterone concentrations, phallic growth in response to DHT cream treatment could be an indirect confirmation of 5 alpha-reductase deficiency.

1992 Archives of Disease in Childhood

140. A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis. (Abstract)

who was the first newborn girl of an unrelated couple. Shortly after birth, the diagnoses of congenital glaucoma and pyloric stenosis were made. A detailed history of the father's family revealed that nine members presented glaucoma before 40 years of age. Clinical and ultrasound evaluation showed two inguinal testes, with female external genitalia and no Mullerian derivatives. The patient had a 46,XY karyotype, good testicular response to gonadotrophin stimulation and a remarkably high T (...) A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis. Androgen-insensitivity syndrome (AIS) is a major cause of male pseudohermaphroditism (MPH). Although AIS is usually reported as a monogenic disease resulting from androgen receptor (AR) mutations, on rare occasions it has been observed as part of a multiple congenital anomaly syndrome. We report here a patient

2003 Clinical Genetics

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