|1.||Androgen-Insensitivity Syndrome (Testicular Feminization)
|3.||Cryptorchidism (Undescended Testes)
|4.||Disorders of Sex Development (Intersexuality)
|5.||Gonadal Dysgenesis (Gonadal Agenesis)
|1.||Sultan, Charles: 11 articles (01/2012 - 08/2002)|
|2.||Achermann, John C: 7 articles (04/2013 - 03/2007)|
|3.||Paris, Françoise: 7 articles (01/2012 - 08/2002)|
|4.||Lin, Lin: 6 articles (04/2013 - 03/2007)|
|5.||Mendonca, Berenice B: 5 articles (10/2012 - 07/2003)|
|6.||Costa, Elaine M F: 5 articles (10/2012 - 07/2003)|
|7.||Philibert, Pascal: 4 articles (01/2012 - 03/2007)|
|8.||Hiort, O: 4 articles (01/2012 - 01/2000)|
|9.||Lumbroso, Serge: 4 articles (08/2006 - 08/2002)|
|10.||Fukami, Maki: 3 articles (12/2014 - 05/2009)|
|1.||Testosterone (Sustanon)FDA Link
06/01/1996 - "If male pseudohermaphroditism is suspected on the basis of palpable gonads, we routinely obtain a karyotype, basal adrenal steroid levels, and levels of hCG-stimulated serum testosterone and DHT, then consider a testosterone treatment trial. "
01/01/2014 - "Our data reinforce that NR5A1 analysis must also be performed in 46,XY DSD patients with normal testosterone levels without AR mutations."
04/01/2013 - "Our finding supports evaluation of NR5A1 mutations in 46,XY DSD patients with a range of testosterone levels."
10/01/2012 - "Steroid 5α-RD2 deficiency should be included in the differential diagnosis of all newborns with 46,XY DSD with normal testosterone production before gender assignment or any surgical intervention because these patients should be considered males at birth."
10/01/2012 - "These findings suggest that the MAMLD1 mutations cause 46,XY DSD primarily because of compromised testosterone production around the critical period for sex development. "
|2.||Cholestenone 5 alpha-Reductase (5 alpha-Reductase)IBA
01/01/1994 - "The syndrome of male pseudohermaphroditism secondary to 5 alpha-reductase deficiency is reviewed, as are hormonal evaluation and tissue studies documenting the enzyme deficiency. "
06/01/1992 - "Whether 5 alpha-reductase deficiency is the cause of the male pseudohermaphroditism in SLO syndrome remains the subject of future studies."
02/01/1997 - "Male pseudohermaphroditism due to 5 alpha-reductase deficiency was originally described in 1974. "
05/01/1996 - "Male pseudohermaphroditism due to 5 alpha-reductase deficiency was clinically and biochemically described in a large Dominican kindred of 23 families with 38 affected subjects in 1974. "
08/01/1995 - "The molecular basis for male pseudohermaphroditism produced by the 5 alpha-reductase deficiency is becoming increasingly understood. "
08/01/1985 - "[Male pseudohermaphroditism caused by partial insensitivity to androgens. "
04/01/1982 - "Four of the 5 patients with male pseudohermaphroditism had an adequate elevation of serum androgens after hCG, but in only 3 of them did SHBG decrease. "
04/01/1982 - "Four of the 5 patients with male pseudohermaphroditism had an adequate elevation of serum androgens, did not have decreased SHBG concentrations. "
07/01/1980 - "Sex skin fibroblast cultures were reported to constitute a fair model for studying male pseudohermaphroditism (MPH) due to target organ unresponsiveness to androgens. "
07/01/1980 - "[Human sex skin fibroblast cultures : a useful tool for diagnosis of male pseudohermaphroditism due to target organ unresponsiveness to androgens (author's transl)]."
01/01/2012 - "While most studies of gender development in people with 46,XY DSD have historically emphasized the importance of genes and hormones on gender identity and gender role, more recent evidence for a significant role for socialization exists and is considered here. "
01/01/2012 - "Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals."
10/01/1997 - "The functional properties of these mutant receptors regarding hormone binding and transactivation were characterized in 2 patients and offered a possible treatment modality for a male pseudohermaphroditism newborn. "
05/01/1995 - "The persistent müllerian duct syndrome represents a rare form of male pseudohermaphroditism secondary to anti-müllerian hormone deficiency. "
01/01/1994 - "A rare form of familial male pseudohermaphroditism, the persistent Müllerian duct syndrome (PMDS) is characterized by persistence of uterus and Fallopian tubes in 46,XY phenotypic males and is ascribed to defects in the synthesis or action of anti-Müllerian hormone (AMH). "
01/01/2016 - "Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development."
01/01/2013 - "17β-Hydroxysteroid dehydrogenase type-3 (17βHSD-3) deficiency is a rare cause of 46,XY disorders of sex development. "
01/01/2012 - "17β-hydroxysteroid dehydrogenase 3 (17β-HSD 3) deficiency is a rare cause of 46,XY disorders of sex development (DSD). "
08/01/2005 - "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. "
08/01/2005 - "A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family."
|6.||Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA
01/01/1982 - "Endocrinologic study demonstrated 17 alpha-hydroxylase deficiency with male pseudohermaphroditism. "
05/01/2014 - "Therefore 46,XY DSD with apparent 17,20 lyase deficiency may be due to mutations in CYP17A1, POR or CYB5. "
03/01/2012 - "We have identified the first human CYB5A missense mutation as the cause of isolated 17,20 lyase deficiency in three individuals with 46,XY DSD. "
03/01/2010 - "We studied a 46,XY DSD patient with 17,20-lyase deficiency without missense mutation in the CYP17A1 gene and his parents. "
04/01/2005 - "17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister."
10/01/1978 - "The uptake of [1,2,4,5,6,7-3H]dihydrotestosterone into whole cells and nuclei has been assessed in fibroblasts grown from genital skin of 10 controls and 9 subjects with hereditary male pseudohermaphroditism due to androgen resistance. "
05/10/1975 - "In contrast, fibroblasts grown from the scrotum of one 46,XY male with familial incomplete male pseudohermaphroditism, type 1, an apparent X-linked disorder of phenotypic sexual differentiation, formed dihydrotestosterone at a normal rate."
07/01/1972 - "Blood production rate of dihydrotestosterone in the syndrome of male pseudohermaphroditism with testicular feminization."
01/01/2007 - "We report on three Italian newborns with 46,XY DSD in whom the evaluation of testosterone, dihydrotestosterone, testosterone/dihydrotestosterone (T/DHT) ratio and molecular analysis of the 5alpha-reductase type 2 gene was made in their first month of life. "
01/01/1978 - "[A case of male pseudohermaphroditism with decreased testosterone-dihydrotestosterone conversion (author's transl)]."
|8.||17-Hydroxysteroid Dehydrogenase DeficiencyIBA
05/31/2003 - "[Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency]."
01/01/1993 - "An extensive survey in a highly inbred Arab community documented over 60 cases of male pseudohermaphroditism due to 17 beta hydroxysteroid dehydrogenase deficiency. "
01/01/1993 - "Ten years experience with masculinizing genitoplasty in male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency."
09/01/1992 - "Mechanisms of androgen production in male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency."
06/01/1986 - "Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: gender reassignment in early infancy."
03/01/1993 - "Serum MIS levels correlated with the presence of testicular tissue in two patients with suspected anorchia, five patients with male pseudohermaphroditism, and eight other intersex patients with undescended testes, dysgenetic gonads, or ovotestes. "
11/01/1970 - "HCG stimulation test in prepubertal boys with cryptorchidism, in bilateral anorchia and in male pseudohermaphroditism."
10/01/2012 - "In 46,XY disorders of sex development, a spectrum of phenotypes has been reported including severe and partial forms of gonadal (testicular) dysgenesis, hypospadias, anorchia with microphallus, and even male factor infertility. "
01/01/1979 - "Relations are evident with Turner's syndrome, females with hypoplastic ovaries, male pseudohermaphroditism, mixed gonadal dysgenesis and the vanishing testes syndrome. "
07/01/2011 - "The design of the study was: 1) sequencing of the WT1 gene in 210 patients with 46,XY DSD from the German DSD network, consisting of 150 males with severe hypospadias (70 without cryptorchidism, 80 with at least one cryptorchid testis), 10 males with vanishing testes syndrome, and 50 raised females with partial to complete 46,XY gonadal dysgenesis; and 2) genotype-phenotype correlation of our and all published patients with 46,XY DSD and WT1 mutations. "
|10.||Cholesterol Side-Chain Cleavage Enzyme (CYP11A1)IBA
03/01/2008 - "We performed mutational analysis of CYP11A1 in individuals with 46,XY disorders of sex development and primary adrenal failure, followed by functional studies of P450scc activity and of P450scc RNA splicing. "
06/01/1991 - "Cases of sexual immaturity and male pseudohermaphroditism due to disorders such as androgen resistance, 5 alpha-reductase deficiency, cholesterol desmolase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency, and testicular and ovary dysgenesis can easily be distinguished from 17 alpha-OHD. "
08/01/1983 - "Of 16 patients with complete male pseudohermaphroditism, 12 had androgen receptor (AR) deficiency, one had "receptor-positive" Testicular Feminization, and in three, alternative diagnoses were established (17 alpha hydroxylase deficiency; 20,22-desmolase deficiency; mixed gonadal dysgenesis). "
01/01/1952 - "[Hormonal balance studies before and after surgical castration in a case of male pseudohermaphroditism]."
03/01/1984 - "Leydig cell hypoplasia causing male pseudohermaphroditism: diagnosis 13 years after prepubertal castration."
04/01/2002 - "Investigations revealed 28 patients with congenital adrenal hyperplasia, 14 dysgenetic male pseudohermaphroditism, ten true hermaphroditism, six partial androgen insensitivity, four castration and one epispadias. "
10/01/2013 - "Based on this finding, we screened patients with unexplained 46,XY DSD (n = 11), proximal hypospadias (n = 21) and 46,XX POF (n = 36) for possible NR5A1 copy-number variations (CNVs) via multiplex ligation-dependent probe amplification (MLPA), but did not identify any additional CNVs involving NR5A1. "