How to Trip Rapid Review

Step 1: Select articles relevant to your search (remember the system is only optimised for single intervention studies)

Step 2: press

Step 3: review the result, and maybe amend the or if you know better! If we're unsure of the overall sentiment of the trial we will display the conclusion under the article title. We then require you to tell us what the correct sentiment is.

154 results for

Female Pseudohermaphroditism

by
...
Latest & greatest
Alerts

Export results

Use check boxes to select individual results below

SmartSearch available

Trip's SmartSearch engine has discovered connected searches & results. Click to show

121. 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

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

127. Female Genital Abnormalities

. Can also be persistent urogenital sinus with a single external orifice without an anorectal defect. Abnormalities of external genitalia Labia minora abnormalities: can have labial fusion or hypertrophy in otherwise normal females. Hypertrophy can be unilateral or bilateral and may occasionally require surgical correction. Abnormalities of labia majora: can be hypoplastic or hypertrophic. Abnormal fusion is usually associated with ambiguous genitalia of female pseudohermaphroditism due (...) Female Genital Abnormalities Female Genital Abnormalities information page. Patient | Patient TOPICS Try our Symptom Checker TREATMENT RESOURCES Try our Symptom Checker PROFESSIONAL Upgrade to Patient Pro / / Search Female Genital Abnormalities Authored by , Reviewed by | Last edited 9 Feb 2016 | Certified by This article is for Medical Professionals Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK

2008 Mentor

128. 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

129. 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. (PubMed)

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 (...) 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

2003 Clinical Genetics

130. Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. (PubMed)

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

Full Text available with Trip Pro

2006 Journal of Clinical Endocrinology and Metabolism

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

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

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

133. Experience of Laparoscopic Exploration and Gonadectomy in lntersex Children (PubMed)

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

Full Text available with Trip Pro

1998 Diagnostic and therapeutic endoscopy

134. 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. (PubMed)

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

Full Text available with Trip Pro

1998 American Journal of Human Genetics

135. Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency (PubMed)

Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency Steroidogenic factor 1 (NR5A1/SF-1) plays an essential role in the development of the hypothalamic-pituitary-adrenal and hypothalamic-pituitary-gonadal axes, controlling expression of their many important genes. The recent description of a 46,XY patient bearing a mutation in the NR5A1 gene, causing male pseudohermaphroditism (...) and stability. Consistent with the clinical picture, R255L is transcriptionally inactive and has no dominant-negative activity. The inability of the mutant (MUT) NR5A1/SF-1 to bind canonical DNA sequences might offer a possible explanation for the failure of the mutant protein to transactivate target genes. This is the first report of a mutation in the NR5A1 gene in a genotypically female patient, and it suggests that NR5A1/SF-1 is not necessary for female gonadal development, confirming the crucial role

Full Text available with Trip Pro

2000 American Journal of Human Genetics

136. Prenatal diagnosis of sex differentiation disorders: the role of fetal ultrasound. (PubMed)

karyotype and fluorescence in situ hybridization analysis of sex-determining region on the Y gene (SRY); and 3) hormonal assays of amniotic fluid. Of approximately 10,000 gestations, 16 fetuses underwent prenatal evaluation. Twelve were referred because of an abnormal US and 4 because of genotype-phenotype discrepancy. Five fetuses were diagnosed with female pseudohermaphroditism (21-hydroxylase deficiency in 3 and urorectal septum malformation sequence in 2). Four fetuses were diagnosed with male (...) pseudohermaphroditism (1 with steroid sulfatase deficiency, 1 with presumed camptomelic dysplasia, and 2 undetermined). Five cases had chromosomal abnormalities, and 2 had 46,XX+SRY sex reversal. In all genetic females the uterus was observed on US. In 11 cases initial US scan was performed at 13-15 wk; in 7 of 11, although the initial scan was normal, a repeated scan later in gestation revealed an abnormality. Repeated US scans performed at 13-15 and 22-24 wk gestation are a helpful tool in prenatal diagnosis

Full Text available with Trip Pro

2002 Journal of Clinical Endocrinology and Metabolism

137. Intersexes in swine: a problem in descriptive anatomy. (PubMed)

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

Full Text available with Trip Pro

1984 Canadian Journal of Comparative Medicine

138. Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase. (PubMed)

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

Full Text available with Trip Pro

1992 Journal of Clinical Investigation

139. Early diagnosis and management of 5 alpha-reductase deficiency. (PubMed)

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.

Full Text available with Trip Pro

1992 Archives of Disease in Childhood

140. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. (PubMed)

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

Full Text available with Trip Pro

1992 Journal of Clinical Investigation

To help you find the content you need quickly, you can filter your results via the categories on the right-hand side >>>>