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Female Pseudohermaphroditism

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141. Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression. (PubMed)

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

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1993 Journal of Clinical Investigation

142. Giant accessory female phallic urethral diverticulum. (PubMed)

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

143. Perineal reconstruction in ambiguous genitalia infants raised as females. (PubMed)

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

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1984 Annals of Surgery

144. 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

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

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

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2004 Proceedings of the Royal Society B: Biological Sciences

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

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

147. 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. (PubMed)

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

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2007 Fertility and Sterility

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

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

2005 Urology

149. Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism (PubMed)

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.

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1991 Nature

150. Male pseudohermaphroditism secondary to panhypopituitarism. (PubMed)

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

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1996 Archives of Disease in Childhood

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

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

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1997 Molecular Pathology

152. Familial Incomplete Male Pseudohermaphroditism Associated with Impaired Nuclear Androgen Retention. STUDIES IN CULTURED SKIN FIBROBLASTS (PubMed)

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

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1983 Journal of Clinical Investigation

153. A Case of Female Pseudohermaphroditism Caused by Aromatase Deficiency (PubMed)

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.

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2004 Clinical Pediatric Endocrinology

154. Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca. (PubMed)

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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