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Disorders of Sex Development (Intersexuality)

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In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.

Also Known As:

Intersexuality; Ambiguous Genitalia; Genital Ambiguity; Hermaphroditism; Intersex Conditions; Pseudohermaphroditism; Sexual Development Disorders; Sexual Differentiation Disorders; Ambiguities, Genital; Ambiguity, Genital; Condition, Intersex; Conditions, Intersex; Differentiation Disorder, Sex; Differentiation Disorder, Sexual; Differentiation Disorders, Sex; Differentiation Disorders, Sexual; Disorder, Sex Differentiation; Disorder, Sexual Differentiation; Disorders, Sex Differentiation; Disorders, Sexual Differentiation; Genital Ambiguities; Genitalia, Ambiguous; Intersex Condition; Intersexualities; Sex Development Disorder; Sex Differentiation Disorder; Sexual Development Disorder; Sexual Differentiation Disorder; Disorders of Sexual Development; Sex Development Disorders; Sex Differentiation Disorders

Networked: 514 relevant articles (7 outcomes, 27 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Cryptorchidism (Undescended Testes)
2.	Gonadal Dysgenesis (Gonadal Agenesis)
3.	Ovotesticular Disorders of Sex Development
4.	Androgen-Insensitivity Syndrome (Testicular Feminization)
5.	Neoplasms (Cancer)

Experts

1.	New, Maria I: 10 articles (01/2016 - 12/2004)
2.	Yuen, Tony: 5 articles (01/2016 - 05/2012)
3.	Juul, Anders: 5 articles (01/2016 - 09/2011)
4.	Guerra-Júnior, Gil: 5 articles (01/2014 - 02/2005)
5.	Nimkarn, Saroj: 5 articles (03/2009 - 08/2002)
6.	Rajpert-De Meyts, Ewa: 4 articles (01/2016 - 09/2007)
7.	Hiort, Olaf: 4 articles (09/2014 - 06/2009)
8.	Maciel-Guerra, Andréa Trevas: 4 articles (01/2014 - 11/2011)
9.	Köhler, Birgit: 4 articles (11/2013 - 06/2004)
10.	Ford, Alex T: 4 articles (02/2012 - 08/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Disorders of Sex Development:

1.	Dexamethasone (Maxidex)FDA LinkGeneric 01/01/2007 - "Prenatal treatment of 21-OH deficiency is effective in reducing genital ambiguity, and short-term outcome studies of children exposed to dexamethasone in utero indicate no significant adverse effects. " 12/01/2006 - "Genital ambiguity in females can be reduced or eliminated with prenatal dexamethasone treatment, which successfully suppresses fetal androgen production. " 09/01/1994 - "Dexamethasone given in the first trimester ameliorates genital ambiguity in the affected female fetus. " 01/01/2016 - "Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. " 06/01/2014 - "To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. "
2.	Testosterone (Sustanon)FDA Link 09/01/2013 - "Indications that the prenatal action of testosterone in the brain is an important determinant of gender development and improved reconstructive techniques have caused a shift in male gender assignments in patients with 46XY disorders of sex development. " 11/01/2014 - "The patient, ascertained at birth due to ambiguous genitalia, showed normal values of plasma testosterone in the late neonatal period. " 04/01/2013 - "A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development." 07/01/2012 - "Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations." 01/01/2012 - "In women, excess production of endogenous testosterone due to inborn disorders of sexual development (DSD) may convey a competitive advantage. "
3.	HormonesIBA 10/01/2014 - "The aim of this study was to evaluate the effect of hormone therapy (HT) in the endothelial function of 46,XY disorders of sexual development (DSD) patients with female phenotype. " 01/01/1947 - "Adrenal tumours and pseudohermaphroditism; a hormone study of cases." 06/01/2015 - "Hormone replacement in disorders of sex development: Current thinking." 12/01/2014 - "When hormone defects cannot explain it: malformative disorders of sex development." 02/01/2014 - "Defects in gonadal differentiation or hormone secretion and action result in disorders of sex development (DSD). "
4.	CosmeticsIBA 07/01/2005 - "Early 1-stage Passerini-Glazel feminizing genitoplasty is a safe and effective procedure that allows total surgical correction of ambiguous genitalia in infancy and good cosmetic results. " 07/01/2015 - "In the process, the advantages of early as well as delayed cosmetic genital surgery will be discussed when contemplating the ethical question: Do parents have the moral right to provide informed consent to surgically alter the ambiguous genitalia of their infants born with DSD?" 05/01/2015 - "In the case of infants born with disorders of sex development (DSD), early cosmetic genitoplasty was long believed to be in the child's best interest and was therefore the standard of care. " 01/01/2012 - "Do surgical interventions influence psychosexual and cosmetic outcomes in women with disorders of sex development?" 06/01/2011 - "With minimal invasiveness, LESS surgery produces good cosmetic effect and allows rapid postoperative recovery, thus may become a promising alternative to the management of pseudohermaphroditism."
5.	Brilliant Cresyl BlueIBA 01/30/1995 - "More widespread use of brilliant cresyl blue staining for HbH inclusions in individuals with the facial phenotype of ATR-X and/or ambiguous genitalia may lead to the identification of more affected patients and improved understanding of the clinical spectrum of ATR-X."
6.	Penis agenesisIBA 09/01/2002 - "The objective of this study was to identify and study adults who have a 46,XY karyotype and presented as infants or children with variable degrees of undermasculinization of their genitalia (female genitalia, ambiguous genitalia, or micropenis). " 03/01/1997 - "The study included 29 patients who were categorized into three groups (isolated micropenis, 9 patients; microphallus with genital ambiguity, 11 patients; genital ambiguity with normal-sized phallus, 9 patients). " 03/01/1997 - "However, recent studies have reported 5 alpha R deficiency (5 alpha RD) in patients with isolated micropenis and hypothesized that 5 alpha RD is not invariably associated with genital ambiguity. " 06/01/1998 - "As a result, patients with this syndrome display aberrant male development ranging from complete pseudohermaphroditism to males with micropenis but with otherwise normal sex characteristics. " 03/01/1997 - "The results showed that the incidence of 5 alpha RD was much higher in cases of ambiguous genitalia with micropenis (5 families out of 10, 50%) than in those with isolated microphallus (1/9, 11.1%) or those with ambiguous genitalia and normal-sized phallus (1/8, 12.5%). "
7.	DNA (Deoxyribonucleic Acid)IBA 01/01/2014 - "Previous genetic studies located the sex locus on chromosome 2. We used DNA polymorphisms of geographically diverse V. vinifera genotypes to confirm the position of this locus, to characterise the genetic diversity and traces of selection in candidate genes, and to explore the origin of hermaphroditism. " 03/01/2001 - "In the present study, we searched for SRY sequence in genomic DNA isolated from peripheral leukocytes in eleven 46,XX true hermaphrodites and four 46,XX males (only one with ambiguous genitalia). " 06/01/1994 - "The aim of this study was to see if the classification of XX sex-reversed individuals into three groups, Y-DNA-positive phenotypically normal XX males, Y-DNA-negative XX males with genital ambiguities and Y-DNA-negative true hermaphrodites can be applied to our cases. " 09/01/2004 - "Prenatal DNA testing in at-risk families should be considered and appropriate therapy offered to minimize or prevent genital ambiguity." 05/01/1995 - "On the basis of cytogenetics karyotype analysis, southern blot hybridization using sex-determining region of the Y chromosome (SRY) probe and amplified cation of the genomic DNA between the SRY code region by specific primers through polymerase chain reaction (PCR) have been performed in four cases of hermaphroditism. "
8.	Complement System Proteins (Complement)IBA 05/01/2013 - "Indeed, the chicken embryo is a suitable model for the functional analysis of genes implicated in human disorders of sex development, and studies in this model will complement those carried out in mammalian models such as the mouse. " 06/01/2015 - "Disorders of sexual development (DSDs) are a group of disorders in which there is discordance between anatomic or hormonal sex and sex chromosome complement. " 02/01/2011 - "In response to concerns regarding outdated, confusing and/or controversial terms, such as "intersex," "hermaphroditism" and "sex reversal," the consensus statement recommended a new taxonomy based on the umbrella term, "disorders of sex differentiation." Additional categorization based on sex chromosome complement was recommended but not clearly defined and variously interpreted. " 01/01/1985 - "A fourth sib, a sister, also is severely retarded mentally; her chromosome complement is 46,XX. The 46,XY individuals, who were raised as females, presented varying degrees of genital ambiguity, indicating that their gonadal activities had been arrested at different times during embryogenesis. " 07/01/1976 - "Male hermaphroditism with bilateral testes, well-formed Müllerian structures, and 45,X chromosome complement."
9.	Androgen Receptors (Androgen Receptor)IBA 03/01/1987 - "[A study on a human genital skin androgen receptor in patients with intersexuality]." 12/01/2014 - "Androgen receptor gene mutations are one of the leading causes of disorders of sex development (DSD) exhibited by sexual ambiguity or sex reversal. " 10/01/2011 - "Long-term biochemical evaluation of the androgen receptor pathway in males with disorders of sex development." 02/01/2010 - "Variability of CAG tandem repeats in exon 1 of the androgen receptor gene is not related with dog intersexuality." 02/28/2008 - "Androgen insensitivity is caused by mutations in the androgen receptor gene, and is a common etiological factor to ambiguous genitalia in the newborn. "
10.	Aromatase (CYP19)IBA 11/01/2007 - "An aromatase deficient girl was born with ambiguous genitalia. " 01/01/2001 - "In some of these experiments, the occurrence of various degrees of gonadal intersexuality is related to weak differences in aromatase activity, suggesting subtle regulations of the aromatase gene at the transcription level. " 06/01/1999 - "In some of these experiments, the occurrence of various degrees of gonadal intersexuality is related to weak differences in aromatase activity, suggesting subtle regulations of the aromatase gene at the transcription level. " 09/01/1998 - "Here we report a novel homozygous aromatase mutation (Val370-to-Met) found in a girl with pseudohermaphroditism (Prader V). " 08/01/1998 - "For gonadal intersexuality, we studied the relationship between gonadal aromatase activity and gonadal structure at 28.5 degrees C (pivotal temperature), from the beginning of TSP to hatching, and compared results to those obtained at 30 degrees C (producing 100% females) and 25 degrees C (producing 100% males). "

Therapies and Procedures

1.	Prosthesis Implantation 04/01/2012 - "We recruited for this study 18 patients with testis loss treated by testicular prosthesis implantation, including 10 cases of prostate cancer, 3 cases of anorchia, 2 case of orchiatrophy, 2 cases of hermaphroditism and 1 case of cryptorchidism. "
2.	Transplants (Transplant) 01/01/2000 - "This is a prospective cohort study describing the use of amnion grafts for urethral reconstruction in 8 patients with ambiguous genitalia associated with low or mid-portion urethrovaginal confluence or vaginal agenesis with low external urethral meatus implantation. " 05/01/1980 - "Hermaphroditism induced in the female chick by testicular grafts." 01/01/2004 - "Two children, 46XY males who had evidence of pseudohermaphroditism, hypogonadism and renal failure with a glomerulopathy atypical for DDS, but no Wilms' tumour or nephroblastomatosis, on investigation, prior to transplant, were identified with missense mutations in the WT1 gene, in exons 8 and 9, respectively. " 02/01/2015 - "In 4 of 32 cases in which the fetal sex was reportedly discordant between noninvasive prenatal testing and karyotype or ultrasonogram, a potential biological reason for the discordance exists, including two cases of documented co-twin demise, one case of a maternal kidney transplant from a male donor, and one case of fetal ambiguous genitalia. " 06/01/1982 - "Action of estradiol on the hermaphroditism induced by testicular graft in the female chick embryo."
3.	Castration 10/01/1964 - "[APROPOS OF CASTRATION IN MASCULINE PSEUDOHERMAPHRODITISM]." 10/01/2009 - "To our knowledge, this case is the first published report of laparoscopic castration in a patient with a sexual differentiation disorder and prior renal transplantation." 04/01/2006 - "Further, we show that several types of gonadal malformations (SSP and three forms of hermaphroditism) are produced by E2 exposure during gonadal differentiation, whereas a final morphology (nonpigmented ovaries) appears to be the result of chemical castration (disruption of androgen synthesis and/or activity) by atrazine. " 01/01/1971 - " Psychic intersexuality with increased male and increased female sexual behavior was observed both before and after postpuberal castration and sex hormone replacement. "
4.	Laparotomy 01/01/1983 - "The significance of diagnostic laparotomy in girls with disorders of sexual development." 07/01/2011 - "The major advantages of laparoscopy in different indications were magnified access into the depth of pelvis and early frozen section biopsies in HD, accurate placement of neoanus in the center of muscle complex in ARM, early ligation of vessels and avoidance of laparotomy in sacrococcygeal teratoma, ease of decision making and better mobilization of vessels in undescended testes, and diagnostic accuracy and therapeutic procedure in ambiguous genitalia. " 03/01/2001 - "The diagnostic evaluation of newborns with ambiguous genitalia consisted of history and physical examination, determination of serum electrolytes, plasma 17-hydroxyprogesterone (17-OHP), chromosome analysis on cultured lymphocytes, sonogram of the abdomen in connection with a genitogram; and whenever it was necessary, basal plasma concentrations of testosterone and, after the stimulation with human chorionic gonadotropin (hCG), laparotomy for definitive determination of gonadal histology. "
5.	Female Circumcision (Infibulation) 12/01/2012 - "Phalloplasty was carried out in nine intersex patients with ambiguous genitalia as a result of female circumcision, with a consequent partial or complete excision of their microphallus. " 10/01/1975 - "Ambiguous genitalia: clitorectomy and clitoroplasty in the female child."