Table 3.

Clinical features in male patients with fetal-onset primary hypogonadism with Leydig cell-specific (steroidogenic) dysfunction.

Gene	Protein	OMIM	Hormone levels	Associated clinical features
LHCG-R	LH/CG receptor	#238320	↓ ↓All steroids	None
STAR	StAR	#201710	↓ ↓All steroids	Lipoid congenital adrenal hyperplasia
CYP11A1	P450scc	#613743	↓ ↓All steroids	Adrenal insufficiency
CYP17A1	P450c17 (17α-hydroxylase activity)	#202110	↑Pregnenolone	Adrenal insufficiency
			↑Progesterone	Hypertension
CYP17A1	P450c17 (17,20-lyase activity)	#202110	↑17OH-pregnenolone	Adrenal insufficiency
			↑17OH-progesterone
			↑Pregnenolone
			↑Progesterone
POR	P450 oxidoreductase	#613571	↑Progesterone	Antley–Bixler syndrome
			↑17OH-progesterone
HSD3B2	3β-HSD type 2	#201810	↑DHEA	Adrenal insufficiency
			↑17OH-pregnenolone
			↑Pregnenolone
HSD17B3	17β-HSD type 3	#264300	↑Androstenedione	None
			↑DHEA
			↑17OH-progesterone
			↑17OH-pregnenolone

OMIM, Online Mendelian Inheritance in Man locus, gene and phenotype numbers (http://www.ncbi.nlm.nih.gov/omim).