Mixed Gonadal Dysgenesis

A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.

Also Known As:

Networked: 50 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

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)

Experts

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)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mixed Gonadal Dysgenesis:

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. "
3.	OxidoreductasesIBA 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. "
5.	Penis agenesisIBA 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. "
6.	AnorchiaIBA 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. "

Therapies and Procedures

1.	Laparotomy 10/01/1989 - "[Mixed gonadal dysgenesis and gonadal tumor--growth of seminoma after 27 years of an exploratory laparotomy]."
2.	Hysterectomy 12/01/2007 - "Scrotal hysterectomy in a male patient with mixed gonadal dysgenesis 46,XY(75%)/45,X(25%)."