| 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 duct ... |