Table 2.

Published SPLIS gonadal clinical phenotype, in all cases, the phenotype was noted post-birth/in early infancy.

Pt no.	SGPL1 pathogenic variant	Ethnicity	Sex	Concomitant adrenal disease (Y/N)	Microphallus (Y/N)	Cryptorchidism (Y/N)	LH/FSH at presentation	HCG testing /LHRH and result	Anti-Müllerian hormone level	Publication
4†	c.261+1G	Peruvian	M	Y	Y	Bilateral	Raised (LH 36 IU/L, FSH 58 IU/L)	U	40 pmol/L (NR 600–2000, ECLIA)	Prasad (4)
8†	c.511A>G, p.N171D	Pakistani	M	Y	Y	Bilateral	Raised (LH 27 IU/L, FSH 71 IU/L)	No response in testosterone (1.0 nmol/L day 1, 0.9 nmol/L day 3) to hCG stimulation, ‘flat’ androstenedione and DHT response	U	Maharaj (7)
22	c.868T>c, p.F290L; c.993C<G, p.Y331*	White American	M	Y	Y	Bilateral	Raised (LH 23 IU/L, FSH 41 IU/L)	U	U	Taylor (9)
23	c.934delC, p. L312Yfs*30	White European	M	Y	Y	Bilateral	Raised*	U	U	Janecke (2)
26†	c.1018C >T, p.R340W	Turkish	M	Y	N	Bilateral	Raised (LH 52.6 IU/L, FSH 71.5 IU/L)	U	11.6 ng/mL (NR 14–466)	Menevse (20)
31	c.1233delC, p.F411Lfs*56	Afghan	M	Y	N	Bilateral	U	U	U	Bamborshke (5)
34	c.1513C >T, p.R505*	Arabic	M	Y	Y	Bilateral	Raised*	Lack of testosterone response to hCG stimulation*; exaggerated gonadotrophin response to LHRH	Low*	Janecke (2)
35	c.1513C >T, p.R505*	Arabic	M	Y	Y	Bilateral	Raised*	Lack of testosterone response to hCG stimulation*; exaggerated gonadotrophin response to LHRH	Low*	Janecke (2)
36	c.1566+2T>C; c.854G>A, C285Y	Unknown	M	Y	Y	U	U	U	U	Zhao (10)

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

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

FSH, follicle-stimulating hormone; hCG, human chorionic gonadotropin; LH, luteinizing hormone; LHRH, luteinizing hormone releasing hormone; N, no; U, unknown; Y, yes.