Orphanet: Diagnosi dei disordini dello sviluppo sessuale [pannello di geni]
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Diagnosis of sexual development disorders [panel of genes]

  • Phone : 39 0382 1753184
  • Additional Phone : 39 0382 1753185
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Last update: September 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (40)
45,X/46,XY mixed gonadal dysgenesis
46,XX gonadal dysgenesis
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
46,XY complete gonadal dysgenesis
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Alpha-thalassemia-X-linked intellectual disability syndrome
Campomelic dysplasia
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Complete androgen insensitivity syndrome
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Corpus callosum agenesis-abnormal genitalia syndrome
Denys-Drash syndrome
Familial prostate cancer
Frasier syndrome
Generalized glucocorticoid resistance syndrome
Juberg-Marsidi syndrome
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to partial LH resistance
Meacham syndrome
Müllerian aplasia and hyperandrogenism
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Partial androgen insensitivity syndrome
Persistent Müllerian duct syndrome
Posterior hypospadias
SERKAL syndrome
Smith-Lemli-Opitz syndrome
WAGR syndrome
X-linked lissencephaly with abnormal genitalia
X-linked myotubular myopathy-abnormal genitalia syndrome
List of genes tested (including panels) (31)
AMH
AMHR2
AR
ARX
ATRX
CBX2
CYP11A1
CYP11B1
CYP21A2
DHCR7
DHH
DMRT1
GATA4
HSD17B3
HSD3B2
LHCGR
MAMLD1
MAP3K1
NR0B1
NR3C1
NR5A1
POR
RSPO1
SOX3
SOX9
SRD5A2
SRY
STAR
WNT4
WT1
WWOX
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.