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17-OHP 17-hydroxyprogesterone
21-OHD 21-hydroxylase deficiency
ABS Antley-Bixler syndrome
ACTH Adrenocorticotropin
AGD Asymmetric gonadal differentiation (synonym Mixed Gonadal Dysgenesis, MGD)
AIS Androgen insensitivity syndrome
AKR1C Aldo-ketoreductase
ALDH Aldehyde dehydrogenase (synonym: Retinaldehyde Dehydrogenase, RALDH)
AMH Anti-Müllerian hormone (synonym: Müllerian Inhibiting Substance, MIS)
AMHR AMH receptor
AR Androgen receptor
ARE Androgen response element
ATRX Alpha-thalassemia, mental retardation gene on the X chromosome
AXIN Axis inhibitor
BMP Bone morphogenetic protein
C4 Complement component 4
CAH Congenital adrenal hyperplasia
CAIS Complete androgen insensitivity syndrome
CBX2 Chromobox homolog gene 2
CFTR Cystic fibrosis transmembrane conductance regulator
CGH Comparative genomic hybridization
CGPR Calcitonin gene-related peptide
CITED CBP/p300-interacting transactivator
C-KIT Kit oncogene
CNS Central nervous system
CNV Copy-number variation
CYP11B1 Cytochrome P450, family 21, subfamily B, polypeptide 1
CYP17A1 Cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 Cytochrome P450, family 19, subfamily A, polypeptide 1
CYP21A1P Cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene
CYP21A2 Cytochrome P450, family 21, subfamily A, polypeptide 2
CYP26B1 Cytochrome P450, family 26, subfamily B, polypeptide 1
CYP51A1 Cytochrome P450, family 51, subfamily A, polypeptide 1
DACH Dachshund
DAX1 DSS (dosage-sensitive sex reversal)-associated gene 1
DELFIA Dissociation-enhanced lanthanide fluoroimmunoassay
DHCR Dehydrocholesterol reductase
DHEA Dehydroepiandrosterone
DHH Desert hedgehog
DHT Dihydrotestosterone
DM Doublesex- and MAB3
DMRT Doublesex- and MAB3-related transcription factor
DNA Deoxyribonucleic acid
DOC Deoxycorticosterone
DSD Disorder of sex development
EMX Empty spiracles gene
FGF Fibroblast growth factor
FGFR Fibroblast growth factor receptor
FISH Fluorescent in situ hybridization
FOG Friend of GATA
FOXL2 Forkhead transcription factor 2
FSH Follicle-stimulating hormone
FST Follistatin
GADD45G Growth arrest- and DNA damage-inducible gene 45 gamma
GATA4 GATA-binding protein 4
GC-MS Gas chromatography-mass spectrometry
GSK3β Glycogen synthase kinase 3-beta
GWAS Genome-wide association studies
hCG Human chorionic gonadotropin
HMG High mobility group
HOX Homeobox
HRQOL Health-related quality of life
HSD Hydroxysteroid dehydrogenase
HSD3B 3-beta-hydroxysteroid dehydrogenase
IGF1 Insulin-like growth factor 1
IGFBP3 Insulin-like growth factor binding protein 3
IM Intramuscular
INSL3 Insulin-like factor 3
IU International unit
LC-MS/MS Liquid chromatography-mass spectrometry in tandem
LEF Lymphoid enhancer-binding factor 1
LGR4 Leucine-rich repeat-containing G protein-coupled receptor
LH/CGR Luteinizing hormone/chorionic gonadotropin receptor
LH Luteinizing hormone
LHX LIM homeobox gene
LHX9 LIM homeobox gene 9
MAMLD1 Mastermind-like domain-containing protein 1
MAP3K4 Mitogen-activated protein kinase 4
MGD Mixed gonadal dysgenesis (synonym Asymmetric gonadal differentiation, AGD)
MKKS McKusick-Kaufman syndrome
MRKH Mayer-Rokitansky-Küster-Hauser syndrome
MURCS Müllerian agenesis associated with urinary tract abnormalities, and even cervicothoracic somite dysplasia
NANOG Homeobox transcription factor NaNog
NCAH Nonclassic congenital adrenal hyperplasia
NR0B1 Nuclear receptor subfamily 0, group B, member 1
NR3C1 Nuclear receptor subfamily 3, group C, member 1
NR5A1 Nuclear receptor subfamily 5, group A, member 1
OART Ovarian adrenal rest tumor
OCT Octamer binding transcription factor
P450c17 Cytochrome P450 17-hydroxylase/17,20-lyase
P450scc Cytochrome P450 side-chain cleavage enzyme
PAIS Partial androgen insensitivity syndrome
PAR Pseudoautosomal region
PAX Paired box gene
PCOS Polycystic ovary syndrome
PCR Polymerase chain reaction
PDGF Platelet-derived growth factor
PGD 6-phosphogluconate dehydrogenase
PKD Polycystic kidney disease
PMDS Persistent Müllerian ...

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