| 17-OHP | (17-hydroxyprogesterone), 17-hidroxiprogesterona |
| 21-OHD | (21-hydroxylase deficiency), Deficiencia de la enzima 21-hidroxilasa |
| ABS | (Antley-Bixler syndrome), Síndrome de Antley-Bixler |
| ACTH | (Adrenocorticotropin), Adrenocorticotropina |
| AGD | (Asymmetric gonadal differentiation [synonym Mixed Gonadal Dysgenesis, MGD]), Diferenciación gonadal asimétrica (sinónimo: disgenesia gonadal mixta, MGD) |
| AIS | (Androgen insensitivity syndrome), Síndrome de insensibilidad a los andrógenos |
| AKR1C | (Aldo-ketoreductase), Aldo-cetorreductasa |
| ALDH | (Aldehyde dehydrogenase [synonym: Retinaldehyde Dehydrogenase, RALDH]), Aldehído deshidrogenasa (sinónimo: retinaldehído deshidrogenasa, RALDH) |
| AMH | (Anti-Müller hormone [synonym: Müller Inhibiting Substance, MIS]), Hormona antimülleriana (sinónimo: sustancia inhibidora de Müller, MIS) |
| AMHR | (AMH receptor), Receptor AMH |
| AR | (Androgen receptor), Receptor de andrógenos |
| ARE | (Androgen response element), Elemento de respuesta androgénica |
| ATRX | (Alpha-thalassemia, mental retardation gene on the X chromosome), Alfatalasemia, gen de retraso mental en el cromosoma X |
| AXIN | (Axis inhibitor), Inhibidor de axis |
| BMP | (Bone morphogenetic protein), Proteína morfogenética ósea |
| C4 | (Complement component 4), Componente 4 del complemento |
| CAH | (Congenital adrenal hyperplasia), Hiperplasia suprarrenal congénita |
| CAIS | (Complete androgen insensitivity syndrome), Síndrome de insensibilidad androgénica completa |
| CBX2 | (Chromobox homolog gene 2), Cromosecuencia (chromobox) homóloga 2, homólogo del m33 murino |
| CFTR | (Cystic fibrosis transmembrane conductance regulator), Regulador de la conductancia transmembrana de la fibrosis quística |
| CGH | (Comparative genomic hybridization), Hibridación genómica comparativa |
| CGPR | (Calcitonin gene-related peptide), Péptido relacionado con el gen de la calcitonina |
| CITED | (CBP/p300-interacting transactivator), Transactivador que interactúa con CBP/p300 |
| C-KIT | (Kit oncogene), Receptor de tirosina quinasa oncogénico |
| CNS | (Central nervous system), Sistema nervioso central |
| CNV | (Copy-number variation), Variación en el número de copias |
| CYP11B1 | (Cytochrome P450, family 21, subfamily B, polypeptide 1), Citocromo P450, familia 21, subfamilia B, polipéptido 1 |
| CYP17A1 | (Cytochrome P450, family 17, subfamily A, polypeptide 1), Citocromo P450, familia 17, subfamilia A, polipéptido 1 |
| CYP19A1 | (Cytochrome P450, family 19, subfamily A, polypeptide 1), Citocromo P450, familia 19, subfamilia A, polipéptido 1 |
| CYP21A1P | (Cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene), Citocromo P450, familia 21, subfamilia A, polipéptido 1 pseudogén |
| CYP21A2 | (Cytochrome P450, family 21, subfamily A, polypeptide 2), Citocromo P450, familia 21, subfamilia A, polipéptido 2 |
| CYP26B1 | (Cytochrome P450, family 26, subfamily B, polypeptide 1), Citocromo P450, familia 26, subfamilia B, polipéptido 1 |
| CYP51A1 | (Cytochrome P450, family 51, subfamily A, polypeptide 1), Citocromo P450, familia 51, subfamilia A, polipéptido 1 |
| DACH | (Dachshund), Perro tejonero o perro salchicha |
| DAX1 | (DSS [dosage-sensitive sex reversal] -associated gene 1), DSS (reversión sexual sensible a dosis asociado al gen 1) |
| DELFIA | (Dissociation-enhanced lanthanide fluoroimmunoassay), Fluoroinmunoensayo de disociación aumentada por lantánidos |
| DHCR | (Dehydrocholesterol reductase), Dehidrocolesterol reductasa |
| DHEA | (Dehydroepiandrosterone), Dehidroepiandrosterona |
| DHH | (Desert ... |