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Female Pseudohermaphroditism

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141. Prenatal diagnosis of sex differentiation disorders: the role of fetal ultrasound. (Full text)

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

2002 Journal of Clinical Endocrinology and Metabolism PubMed abstract

142. Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. (Full text)

Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. Androgen insensitivity syndrome (AIS) is caused by mutations in the androgen receptor gene and is associated with a variety of phenotypes in 46,XY individuals, ranging from phenotypic women [complete form (CAIS)] to men with minor degrees of undervirilization or infertility [partial form (PAIS)]. We studied 32 subjects (...) with male pseudohermaphroditism from 20 families (9 CAIS, 11 PAIS) with the following criteria for AIS: 46,XY karyotype, normal male basal and human chorionic gonadotropin-stimulated levels of serum testosterone and steroid precursors, gynecomastia at puberty, and, in prepubertal patients, a family history suggestive of X-linked inheritance. The entire coding region of the androgen receptor gene was analyzed, and mutations were found in all families with CAIS and in eight of 11 families with PAIS

2003 Journal of Clinical Endocrinology and Metabolism PubMed abstract

143. Giant accessory female phallic urethral diverticulum. (Abstract)

Giant accessory female phallic urethral diverticulum. Anomalies of the urogenital sinus have been described in association with male pseudohermaphroditism, bladder and uterine duplication, and a spectrum of external genital anomalies, including a female phallic urethra. The evaluation and optimal surgical management of these anomalies can be complex. We describe a case of a female patient with an accessory phallic urethra and a urogenital sinus anomaly. The presence of stenosis of the accessory

2006 Urology

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

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

145. 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

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

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 adrenal failure, demonstrated the crucial role of SF-1 in male gonadal differentiation. The role of SF-1 in human ovarian development was, until now, unknown. We describe a phenotypically and genotypically normal girl, with signs and symptoms of adrenal insufficiency and no apparent defect in ovarian maturation, bearing a heterozygote G-->T transversion in exon 4 of the NR5A1 gene that leads to the missense R255L in the SF-1 protein. The exchange does not interfere with protein translation

2000 American Journal of Human Genetics PubMed abstract

147. Perineal reconstruction in ambiguous genitalia infants raised as females. (Full text)

Perineal reconstruction in ambiguous genitalia infants raised as females. Sixty-six patients with ambiguous genitalia, representing a combined experience, underwent reconstruction of the perineum to achieve a feminine phenotype. These patients represent four major etiologic groups, adrenogenital syndrome, male pseudohermaphroditism, mixed gonadal dysgenesis, and true hermaphroditism. If the patient is to be raised as a female, the perineum is reconstructed early in the neonatal period by doing

1984 Annals of Surgery PubMed abstract

148. Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency

Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency Orphanet: 46,XY disorder of sex development due to 5 alpha reductase 2 deficiency Menu Rare diseases Orphan drugs Expert centres and Networks Diagnostic tests Research and trials Patient organisations Professionals and institutions Other information Orphanet produces its data according to published procedures The portal for rare diseases and orphan drugs x Search for a rare disease * (*) mandatory field Search Disease name Orpha (...) ; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis. ORPHA:753 Classification level: Disorder Synonym(s): 46,XY DSD due to 5-alpha-reductase 2 deficiency

2005 Orphanet

149. Genetic sex determination, gender identification and pseudohermaphroditism in the knobbed whelk, Busycon carica (Mollusca: Melongenidae). (Full text)

Genetic sex determination, gender identification and pseudohermaphroditism in the knobbed whelk, Busycon carica (Mollusca: Melongenidae). We report perhaps the first genic-level molecular documentation of a mammalian-like 'X-linked' mode of sex determination in molluscs. From family inheritance data and observed associations between sex-phenotyped adults and genotypes in Busycon carica, we deduce that a polymorphic microsatellite locus (bc2.2) is diploid and usually heterozygous in females (...) , hemizygous in males, and that its alleles are transmitted from mothers to sons and daughters but from fathers to daughters only. We also employ bc2.2 to estimate near-conception sex ratio in whelk embryos, where gender is indeterminable by visual inspection. Statistical corrections are suggested at both family and population levels to accommodate the presence of homozygous bc2.2 females that could otherwise be genetically mistaken for hemizygous males. Knobbed whelks were thought to be sequential

2004 Proceedings of the Royal Society B: Biological Sciences PubMed abstract

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

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

2008 PLoS medicine PubMed abstract

151. A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. (Abstract)

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family.Two female siblings of a family with 7 children were referred to the urology department because of bilateral inguinal masses. The patients had presented after birth with ambiguous (...) genitalia, but no further diagnostic procedures had been performed, and they were raised as girls until the ages of 13 and 15 years. At this time, both had striking ambiguity of the genitalia, with a clitoris-like phallus, severely bifid scrotum, pseudovaginal perineoscrotal hypospadias, a rudimentary prostate, and inguinal testes. Karyotype was 46,XY. Basal and stimulated levels of serum testosterone (T), dihydrotestosterone (DHT), and T/DHT ratio indicated 5-alpha reductase deficiency. Molecular

2005 Urology

152. Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. (Abstract)

Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. To improve treatment policy, we retrospectively evaluated the results of early corrective genital surgery in 63 sexually ambiguous patients 14 to 38 years old.We analyzed all records classified under male pseudohermaphroditism and true hermaphroditism. Anatomical and functional results and data on self-reported satisfaction were recorded by the managing physician (...) at the last routine followup visit.A total of 38 patients were raised female and 25 were raised male. Basal procedures for external genital reconstruction were initiated shortly after birth, when gender was assigned. Complementary surgical procedures were usually required later. In both sexes there was a significant negative correlation between the number of basal, but not complementary, procedures required and year of birth, due to the adoption of 1-stage procedures in the early 1980s. Most patients

2006 Journal of Urology

153. A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism. (Abstract)

A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism. To describe two cases of 5alpha-reductase deficiency and the identification of a novel frameshift mutation in this sibling pair.Case report.An adolescent clinic at a university hospital.A 14-year-old girl and her younger sister, who presented with primary amenorrhea, deepening of the voice, and clitoromegaly.Deoxyribonucleic acid was extracted from peripheral blood, and 8 exons

2006 Fertility and Sterility

154. 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. (Full text)

17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. To present the clinical, biochemical, and genetic features of a male pseudohermaphrodite whose condition was caused by 17beta-hydroxysteroid dehydrogenase 3 (17beta-HSD3) deficiency.Case report.Gynecology practice in a university teaching hospital.A 15-year-old black American male pseudohermaphrodite with 17beta-HSD3 deficiency.Laboratory evaluation, genetic mutation analysis, bilateral gonadectomy, and hormone (...) replacement.Endocrinologic evaluation and genetic analysis.A diagnosis of 17beta-HSD3 deficiency made on the basis of hormone evaluation was confirmed through genetic mutation analysis of the HSD17B3 gene. Female phenotype was attained after gonadectomy, passive vaginal dilatation, and hormone therapy.Deficiency of 17beta-HSD3 was diagnosed in this patient on the basis of endocrinologic evaluation and was confirmed with genetic mutation analysis. The patient was able to retain her female sexual identity after surgical

2007 Fertility and Sterility PubMed abstract

155. Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism (Full text)

Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism The conversion of testosterone into dihydrotestosterone by steroid 5 alpha-reductase is a key reaction in androgen action, and is essential both for the formation of the male phenotype during embryogenesis and for androgen-mediated growth of tissues such as the prostate. Single gene defects that impair this conversion lead to pseudohermaphroditism in which 46X,Y males have male internal urogenital tracts, but female external (...) with it being the major isozyme in genital tissue. A deletion in this gene is present in two related individuals with male pseudohermaphroditism caused by 5 alpha-reductase deficiency. These results verify the existence of at least two 5 alpha-reductases in man and provide insight into a fundamental hormone-mediated event in male sexual differentiation.

1991 Nature PubMed abstract

156. Familial Incomplete Male Pseudohermaphroditism Associated with Impaired Nuclear Androgen Retention. STUDIES IN CULTURED SKIN FIBROBLASTS (Full text)

Familial Incomplete Male Pseudohermaphroditism Associated with Impaired Nuclear Androgen Retention. STUDIES IN CULTURED SKIN FIBROBLASTS The androgen resistance syndromes are generally felt to be due to quantitative or qualitative abnormalities of the androgen receptor. Some patients with testicular feminization have no demonstrable fibroblast cytosol androgen binding, whereas others have androgen binding in cultured fibrobalsts that is thermolabile or fails to be stabilized by sodium molybdate (...) . I describe here familial incomplete testicular feminization associated with reduced nuclear androgen retention. Fibroblasts, cultured from pubic skin biopsies of two phenotypic female 46XY siblings, were assayed for whole cell and nuclear uptake of [(3)H]dihydrotestosterone in dispersed, intact cells. Whole cell binding of [(3)H]dihydrotestosterone at 22 degrees C in the patients' fibroblasts was in the normal range. However, no high affinity, saturable binding of [(3)H]dihydrotestosterone

1983 Journal of Clinical Investigation PubMed abstract

157. Male pseudohermaphroditism secondary to panhypopituitarism. (Full text)

Male pseudohermaphroditism secondary to panhypopituitarism. An infant with a 46XY karyotype was born with ambiguous genitalia, including microphallus and perineal hypospadias. A female gender was assigned due to extreme failure of development of the external genitalia. Subsequent investigations demonstrated panhypopituitarism, and it is believed that severe gonadotrophin deficiency was responsible for the intersex state. This case illustrates the need to evaluate the hypothalamic-pituitary axis

1996 Archives of Disease in Childhood PubMed abstract

158. Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2). (Full text)

Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2). The enzyme steroid 5 alpha-reductase, via NADPH, catalyses the conversion of testosterone to dihydrotestosterone, which is required for the embryonic differentiation of the external male genitalia and the prostate. An impairment of this reaction causes a form of male pseudohermaphroditism in which genetic males differentiate predominantly as phenotypic females. Molecular

1997 Molecular Pathology PubMed abstract

159. A Case of Female Pseudohermaphroditism Caused by Aromatase Deficiency (Full text)

A Case of Female Pseudohermaphroditism Caused by Aromatase Deficiency Female pseudohermaphroditism is caused by several etiologies. Here we report a case of aromatase deficiency who showed ambiguous genitalia and maternal virilization during pregnancy. The mother had noticed her own virilization from 16 wk of gestation without androgen exposure and had low urinary estriol levels (5~10 μg/ml at 35 wk of gestation). At birth, the patient presented severe virilization (Prader V), and was assigned (...) . These findings suggested a diagnosis of nonadrenal female pseudohermaphroditism. From the clinical features and biochemical data, we endocrinologically diagnosed her as having an aromatase deficiency. The aromatase gene is now under investigation for definite diagnosis. We finally agreed that aromatase deficiency should be suspected when both the mother and the newborn have been virilized.

2004 Clinical Pediatric Endocrinology PubMed abstract

160. Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca. (Abstract)

Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca. We describe a child with the rare clinical entity of female pseudohermaphroditism, accessory phallic urethra, and posterior cloaca who was successfully treated with posterior sagittal anorectovaginourethroplasty. Masculinization was limited to the external genitalia, and no chromosomal, metabolic, or adrenal abnormalities were detected. Associated pathology included bilateral vesicoureteric reflux, a non

2006 Journal of Pediatric Surgery

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