Table 2.

List of genes implicated in CHH.

Gene symbol	OMIM	Inherit-ance	Olfactory defect	Main phisiological mechanism	Functionally validated variants
LEP	164160	AR	nCHH	Mimics energy-deficit HH in the face or early-onset morbid obesity	X
LEPR	601007	AR	nCHH		X
GnRH1	152760	AR, olig	nCHH	GnRH function	X
GnRHR	138850	AR, olig	nCHH		X
KISS1	603286	AR	nCHH	GnRH neuron activatio	X
KISS1R	604161	AR	nCHH		X
TAC3	162330	AR	nCHH		X
TACR3	162332	AR, olig	nCHH		X
ANOS1	300836	XLR	KS	GnRH migration	X
HS6ST1	604846	Olig	KS or CHH		X
PROK2	607002	AR,AD,olig	KS or nCHH		X
PROKR2	607123	AR,AD,olig	KS or nCHH		X
SEMA3A	603961	AD,olig	KS or nCHH		X
PLXNA1	601055	AR, olig	KS or nCHH
SEMA7A	607961	olig	KS or nCHH
SEMA3E	608166	olig	KS or nCHH		X
NSMF	608137	AR,olig	KS or nCHH		X
CCDC141	616031	AR, olig	nCHH
FEZF1	613301	AR	KS		X
DCC	120470	AD, olig	KS or nCHH		X
ntn1	601614	AD, olig	KS or nCHH		X
AMH	600957	AD	KS or nCHH		X
AMHR2	600956	AD	KS or nCHH		X
NDNF	616506	AD	KS		X
SOX10	602229	AD	KS		X
TUBB3	602661	AD	KS		X
GLCE	612134	–	KS or nCHH
FGFR1	136350	AD	KS or nCHH	GnRH neuron fate specification	X
IL17RD	606807	Olig	KS or nCHH		X
FGF17	603725	Olig	KS or nCHH		X
FGF8	600483	Olig	KS or nCHH		X
DUSp6	602748	Olig	KS or nCHH
FLRT3	604808	Olig	KS or nCHH
sPRY4	607984	Olig	KS or nCHH
KLB	611135	AD	KS or nCHH		X
WDR11	606417	AD, olig	KS or nCHH		X
IGSF10	617351	AD	nCHH		X
NR0B1	300473	XLR	nCHH		X
CHD7	608892	AD, AR, olig	KS or nCHH		X
SOX2	184429	AR	nCHH		X

CHH, congenital hypogonadotropic hypogonadism; KS, Kallmann syndrome; AD, autosomal dominant; AR, autosomal recessive; olig: oligogenic. X, yes.