|1.||Gonadal Dysgenesis (Gonadal Agenesis)
|2.||Ovotesticular Disorders of Sex Development
|3.||Androgen-Insensitivity Syndrome (Testicular Feminization)
|4.||XY Disorders of Sex Development 46 (Male Pseudohermaphroditism)
|5.||Disorders of Sex Development (Intersexuality)
|1.||Gearhart, John P: 2 articles (10/2008 - 04/2002)|
|2.||Lila, Anurag R: 1 article (07/2015)|
|3.||Kandalkar, Bhuvaneshwari: 1 article (07/2015)|
|4.||Khadilkar, Kranti S: 1 article (07/2015)|
|5.||Shah, Nalini S: 1 article (07/2015)|
|6.||Sanghvi, Beejal V: 1 article (07/2015)|
|7.||Bandgar, Tushar: 1 article (07/2015)|
|8.||Budyal, Sweta R: 1 article (07/2015)|
|9.||Kasaliwal, Rajeev: 1 article (07/2015)|
|10.||Parelkar, Sandesh V: 1 article (07/2015)|
|1.||Prostaglandins D (PGD)IBA
01/01/1979 - "The present case lies on borderline between PGD and mixed gonadal dysgenesis because remnants of wolffian duct derivatives suggest unilateral fetal testicular activity; classification as PGD however was justified in purely female body features and lacking evidence of testicular tissue."
09/01/2013 - "Mutations of Desert hedgehog (DHH) have been associated to 46,XY pure gonadal dysgenesis (PGD) and to mixed gonadal dysgenesis (MGD); however, there have been no functional studies of mutations described in DHH. "
01/01/2013 - "Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. "
08/01/2006 - "This paper reviews the etiology, treatment and outcome in terms of GI and sexual health for the following syndromes: congenital adrenal hyperplasia (CAH), complete and partial androgen insensitivity (cAIS, pAIS), and pure and mixed gonadal dysgenesis (pGD, mGD). "
10/01/2008 - "The patients included male pseudohermaphrodite (MPH) 169; congenital adrenal hyperplasia (CAH) 91; mixed gonadal dysgenesis (MGD) 29; true hermaphrodite (TH) 25; pure gonadal dysgenesis (PGD) 2; persistent mullerian duct syndrome (PMDS) 2 and others (micropenis, severe hypospadias with cryptorchidism, 46XX male) 39. "
|2.||Testosterone (Sustanon)FDA Link
01/01/2009 - "High testosterone level after stimulation and good response to testosterone treatment in 46,XY mixed gonadal dysgenesis could orient toward male sex assignment. "
10/01/2008 - "Out of 146 cases of male pseudohermaphrodite and 21 cases of true hermaphrodite and 3 cases of mixed gonadal dysgenesis reared as males, testosterone was given for local application for phallic growth in 101 and/or as systemic injection for mental makeup after puberty in 41 cases. "
01/01/2002 - "The karyotype was 46,XY/45,X. These findings confirmed the diagnosis of mixed gonadal dysgenesis with testosterone-producing gonadoblastoma."
08/01/1983 - "In 12 cases of mixed gonadal dysgenesis and five cases of dysgenetic male pseudohermaphroditism, testosterone-dependent steps of sex differentiation were also impaired, and testicular dysgenesis was prominent, even in the younger age group. "
03/01/2011 - "Seven patients had congenital adrenal hyperplasia, one had mixed gonadal dysgenesis, one had partial androgen insensitivity, and one had 5-alpha reductase deficiency syndrome. "
09/01/2010 - "Accordingly, they were classified into 4 groups: (1) sex chromosome aneuploid DSD (mixed gonadal dysgenesis) and (2) disorders of gonadal development (gonadal dysgenesis); (3) androgen biosynthesis defect (5alpha-reductase deficiency, 17beta-hydroxysteroid dehydrogenase deficiency), and (4) defect in androgen action (androgen insensitivity syndrome). "
10/01/2005 - "Of the 39 children 8 (21%) had 17beta-hydroxysteroid dehydrogenase deficiency, 2 (5%) had 3beta-hydroxysteroid dehydrogenase deficiency, 8 (21%) had 5alpha-reductase deficiency, 2 (5%) had mixed gonadal dysgenesis, 1 (2.6%) was a true hermaphrodite, 1 (2.6%) had Klinefelter's syndrome, 1 (2.6%) had partially androgen insensitivity syndrome and 16 (41%) had idiopathic male pseudohermaphroditism. "
10/01/2014 - "Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ leydig cell hypoplasia, partial gonadal dysgenesis, ovotesticular DSD, XX testicular DSD, mixed gonadal dysgenesis, testicular vanishing syndrome, klinefelter syndrome, hypogonadotropic hypogonadism, isolated hypospadias and isolated micropenis was made. "
|4.||Dacarbazine (DIC)FDA LinkGeneric
04/01/2008 - "Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis."
12/30/1996 - "AN infant with mixed gonadal dysgenesis was found to have a 45,X/46,Xpsu dic(Y) karyotype. "
12/30/1996 - "An infant with a mosaic 45,X/46,X,psu dic(Y) (pter-->q11.2::q11.2-->pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads."
10/01/1994 - "A male patient with mixed gonadal dysgenesis, involving a streak gonad on the right and a histologically normal testis in the left, was found to have a 45,X/46,X,dic(Yp) chromosome constitution on peripheral blood cultures. "
12/01/1977 - "45,X/46,X,dic(Yq) mosaicism and mixed gonadal dysgenesis. "
10/01/1987 - "Male pseudohermaphrodites, patients with mixed gonadal dysgenesis and male patients with a micropenis may not be so straightforward, and proper gender assignment in these infants may be difficult. "
10/01/2008 - "The diagnoses in this group consisted of micropenis (4), partial androgen insensitivity syndrome (2) and mixed gonadal dysgenesis (2). "
10/01/2008 - "Of the 26 patients 9 had been raised as female (complete androgen insensitivity syndrome in 3, partial androgen insensitivity syndrome in 3, micropenis in 2 and mixed gonadal dysgenesis in 1). "
10/01/2008 - "Diagnoses included micropenis (8), complete androgen insensitivity syndrome (3), partial androgen insensitivity syndrome (9) and mixed gonadal dysgenesis (6). "
10/01/1987 - "Ten patients (4 with the adrenogenital syndrome, 2 male pseudohermaphrodites, 2 genetic male patients with a micropenis, 1 with mixed gonadal dysgenesis and 1 true hermaphrodite) have undergone reconstruction with this composite procedure. "
08/01/1987 - "The syndrome of rudimentary testes may be a manifestation of XY primary gonadal dysplasia, along with pure XY gonadal dysgenesis, XY hermaphroditism, XY mixed gonadal dysgenesis, and congenital anorchia, probably resulting from fetal regression of the testes. "
01/01/1979 - "Relations are evident with Turner's syndrome, females with hypoplastic ovaries, male pseudohermaphroditism, mixed gonadal dysgenesis and the vanishing testes syndrome. "
03/01/1991 - "The group with female genitalia includes Turner's syndrome, and "pure" dysgenesis; the group with male genitalia involves Klinefelter's syndrome, XX males and may be anorchia; the group with ambiguous genitalia includes "mixed" gonadal dysgenesis, true hermaphroditism and Leydig-cell agenesis. "
|7.||Steroid 21-Hydroxylase (21 Hydroxylase)IBA
12/01/1996 - "[Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency]."
12/01/1996 - "The rare association of mixed gonadal dysgenesis and non classical congenital hyperplasia by 21-hydroxylase deficiency poses the problem of their respective responsibility in the development of sexual ambiguity. "
01/01/1995 - "Although the etiologies of true hermaphroditism and mixed gonadal dysgenesis remain elusive, most gene defects in female pseudohermaphroditism or CAH have been pinpointed to the 21-hydroxylase gene. "
|8.||Growth Hormone (Somatotropin)IBA
01/01/2015 - "Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient."
12/01/2011 - "The published mixed gonadal dysgenesis (MGD) patients with a ring Y chromosome are short in stature, but are not growth hormone (GH) deficient. "
12/01/2011 - "Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency."
|9.||DNA (Deoxyribonucleic Acid)IBA
01/01/1988 - "The presence of DNA fragments characteristic of Yp correlates well with partial male sexual differentiation in the cases of mixed gonadal dysgenesis. "
12/01/1982 - "[DNA content and the size of Y chromosome in a patient with mixed gonadal dysgenesis and 45,X/46,Xt(Y:Y) (pter leads to q12::q12 leads to q11) karyotype]."
|10.||17-Hydroxysteroid Dehydrogenase DeficiencyIBA
09/01/2007 - "Primary amenorrhea in 46,XY females can be due to complete androgen insensitivity syndrome (CAIS), pure gonadal dysgenesis, 17-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis. "
09/01/1995 - "Laparoscopic operations were performed on 6 patients with intersex conditions, including the testicular feminization syndrome in 2, 17 beta-hydroxysteroid dehydrogenase deficiency in 1, 5 alpha-reductase deficiency in 1 and mixed gonadal dysgenesis in 2. Laparoscopic gonadal biopsy, gonadectomy and hysterosalpingectomy were done in select patients. "