Table 3.

Thyroid clinical phenotype reported in SPLIS patients.

Pt no.	SGPL1 pathogenic variant	Ethnicity	Sex	Age of thyroid presentation (age in years)	TSH at diagnosis (mIU/L)	Free T4 at diagnosis (pmol/L)	TPO antibody status	Thyroid US findings	Concomitant adrenal disease (Y/N)	Concomitant SRNS (Y/N)	Publication
3†	c.7dup (p.S3Kfs*11)	Spanish Roma	F	12	12	19	U	Normal	Y	Y	Prasad (4)
4†	c.261+1G	Peruvian	M	1	12.9	11.6	Negative	Normal	Y	Y	Prasad (4)
5†	c.261+1G	Peruvian	F	0.3	8.14	13.5	Negative	Normal	Y	Y	Prasad (4)
8†	c.511A>G, p.N171D	Pakistani	M	0.23	25	10.7	U	Normal	Y	Y	Maharaj (7)
9†	c.518T>A, p.L173Q	Turkish	F	0.17	18	10.4	U	U	Y	Y	Menevse (20)
22	c.868T>C, p.F290L; c.99993C>G, p.Y331*	White American	M	0.18	13.3	18	U	Normal	Y	Y	Taylor (9)
26†	c.1018C >T, p.R340W	Turkish	M	0.4	9.2	12.6	U	U	Y	Y	Menevse (20)
27	c.1037G >T, p.S346I	Moroccan	F	U	U	U	U	U	Y	Y	Lovric (3)
28	c.1037G >T, p.S346I	Moroccan	F	U	U	U	U	U	Y	Y	Lovric (3)
29†	c.1049A>G, p.D350G	Turkish	F	11	8.2	10.5	Negative	Psammomatous calcified thyroglossal cyst, normal thyroid architecture	Y	N	Maharaj (21)
31	c.1079G>T, p.G360V	Turkish	F	0.3	U	U	U	U	Y	Y	Saygili (18)
32	c.1233delC, p.F411Lfs*56	Afghan	M	0.06	29.2	4.5	U	U	Y	Y	Bamborschke (5)
33	c.1247A >G, p.Y416C	Mixed European	F	0.17	U	U	U	U	Y	Y	Lovric (3)
36	c.1566+2T>C; c.854G>A; p.C285Y	Unknown	M	<0.1	U	U	U	U	Y	Y	Zhao (10)
37†	c.1633_1635delTTC, p.F545del	Turkish	F	U	20.3	13.8	Negative	Goitre	Y	Y	Prasad (4)
38	c.605C > T, p.S202L; c.946G>A, p.A316T	Mixed European	M	U	Raised*	U	U	U	N	Y	Lovric (3)

Patient numbers correspond to numbers allocated for PAI phenotype in Table 1.

^*Details of results not published; ^†Patients referred to the QMUL cohort.

N, no; T4, thyroxine; TPO, thyroid peroxidase; TSH, thyroid-stimulating hormone; U, unknown; US, ultrasound; Y, yes.