| 17-OHP | 17-hydroxyprogestrone |
| aCGH | Array Comparative Genomic Hybridization |
| ACTH | Adrenocorticotropic Hormone |
| AMH | Anti-Müllerian Hormone |
| ART | Assisted Reproductive Techniques |
| CAH | Congenital Adrenal Hyperplasia |
| CAIS | Complete Androgen Insensitivity Syndrome |
| CIS | Carcinoma In Situ |
| DHT | Dihydrotestosterone |
| DSD | Differences of Sex Development |
| FISH | Fluorescence In Situ Hybridization |
| FSH | Follicle-Stimulating Hormone |
| GB | Gonadoblastoma |
| GBY | Gonadoblastoma Locus on the Y Chromosome |
| GCNIS | Germ Cell Neoplasia In Situ |
| GCT | Germ Cell Tumor |
| GD | Gonadal Dysgenesis |
| ICSI | Intracytoplasmic Sperm Injection |
| IRB | Institutional Review Board |
| LH | Luteinizing Hormone |
| MRI | Magnetic Resonance Imaging |
| NGS | Next-Generation Sequencing |
| NIPS | Non-Invasive Prenatal Screening |
| PAIS | Partial Androgen Insensitivity Syndrome |
| PCR | Polymerase Chain Reaction |
| POI | Premature Ovarian Insufficiency |
| PGT-M | Preimplantation Genetic Testing for Monogenic |
| QoL | Quality of Life |
| SF-1 | Steroidogenic Factor-1 |
| SNP | Single Nucleotide Polymorphism |
| TSPY | Testis-Specific Protein Y |
| UGT | Undifferentiated Gonadal Tissue |
| US | Ultrasound |
| WES | Whole-Exome Sequencing |
| WGS | Whole-Genome Sequencing |