17OHP	17-hydroxyprogesterone
ACMG	American College of Medical Genetics and Genomics
ACTH	Adrenocorticotropic hormone
AF	Activation function
AMH	Anti-Müllerian hormone
AMH	Anti-Müllerian hormone
Androst	Androstenedione
C	Cortisol
CAT	Computerized axial tomography
CGA	Candidate gene approach
DBD	DNA binding domain
DHEA-s	Dehydroepiandrosterone sulphate
DHT	Dihydrotestosterone
DSD	Disorders/differences of sex development
E2	Estradiol
F	Female
FSH	Follicle-stimulating hormone
HA	Hemagglutinin
hCG	Human chorionic gonadotropin
HGMD.	Human Gene Mutation Database
KO	Knockout
LBD	Ligand binding domain
LH	Luteinizing hormone
LHRH	Luteinizing hormone releasing hormone
LP	Likely pathogenic
M	Male
MAF	Minor allele frequency
MRI	Magnetic resonance imaging
N	Normal
ND	Not determined
NGS	Next generation sequencing
OMIM	Online Mendelian Inheritance in Man
PCOS	Polycystic ovary syndrome
PCR	Polymerase chain reaction
RLU	Relative light units
SF1	Steroidogenic factor 1
T	Testosterone
TGP	Targeted gene panel
US	Ultrasound
Ve	Empty vector
VUS	Variant of unknown significance
WT	Wild-type
Y	Years
ZN	Zinc finger domain