Skip to main content
. 2017 Feb 22;114(10):E1933–E1940. doi: 10.1073/pnas.1621082114

Table S1.

Clinical and hormonal evaluations of our cohort of patients with 11β-hydroxylase deficiency

Patient code Genotype Karyotype Sex Ethnicity Age at diagnosis (y) Prader score BA/CA (y) SD from midparental target height Age at which BP was measured (y) Baseline SBP/DBP DOC (ng/dL) S (ng/dL) Presentation Ref.
ARG1A R43Q; A386V; R453W/CYP11B2-CYP11B1 chimera 46,XX F Caucasian (Argentine/Argentine) 0 4 5.45/4.7 −0.744 0.25 98/56 ND 15,000 Ambiguous genitalia
ARG1B R43Q; A386V; R453W/CYP11B2-CYP11B1 chimera 46,XX F Caucasian (Argentine/Argentine) 0 4 12/9.2 0.031 0.333 100/75 ND 2,990 Ambiguous genitalia
ARG2 R453W/R374Q 46,XY M Caucasian (Argentine/Argentine) 3 N/A 8/3.7 −0.951 3.6 90/45 ND 5,270 Overgrowth and virilization
ARG3A R138C/L407F 46,XY M Hispanic (Argentine/Argentine) 7.7 N/A 13.4/7.7 −1.63 7.7 120/70 ND 790 Gynecomastia
ARG3B R138C/L407F 46,XY M Hispanic (Argentine/Argentine) 3.3 N/A 5.3/3.3 −1.51 ND ND ND 480 Overgrowth and virilization
BRA1 Q356X/Q356X 46,XX M Bras/Bahia 1 Not given BA not advanced 0.62 36 160/110 ND 31,500 Atypical genitalia
BRA2 G267S/G267S 46,XX M Bras/Bahia Not given 5 11/6 −0.54 6 100/60 ND 1,900 Atypical genitalia
BRA4 R404Pfs*18/R404Pfs*18 46,XX F Lebanese 0 3 ND ND 11 140/110 ND 11,560 Ambiguous genitalia (18)
CAN1 R448H/R448H 46,XY M Aboriginal, Canadian, Half Metis 1.95 N/A 13.5/8.7 Still growing 2 122/66 528 12,400 Sepsis, precocious pubertal development/growth
CAN2 R448H/R448H 46,XY M Aboriginal, Canadian 1.41 N/A 15/8.1 Still growing 1 96/40 403 23,300 Increased phallus length
CAN3 c.1200+1G>A/c.1200+1G>A 46,XX F Arabic Pakistani 2.5 2 7.1/2.5 Still growing 2.5 118/57 1,709 62,200 Virilization and hypertension
DEU1 R453Q/M92X 46,XY M German 0 N/A 13.5/10.5 Still growing 1 91/55 5,300 603 Suspicion at screening
DEU2 A368D/P94L 46,XY M Caucasian 1.75 N/A 5/1.9 Still growing 13.5 110/60 820 6,800 Pubarche (17)
EGY1 R347Q/R347Q 46,XX M Caucasian/Egypt 0 4 2/2 Still growing 3 70/50 ND 18,000 Atypical genitalia
EGY2 G446V/G446V 46,XX F Caucasian/Egyptian 0 4 ND Still growing 1 94/70 ND 17,900 Atypical genitalia
EGY3 G446V/G446V 46,XX F Caucasian/Egyptian 0.08 4 3.5/3.4 Still growing 0.5 90/60 ND 17,600 Atypical genitalia
EGY4 G446V/G446V 46,XX F Caucasian/Egyptian 0.08 3 5/4 Still growing 1 90/50 ND 2,700 Atypical genitalia
EGY5 G446V/G446V 46,XY M Caucasian/Egyptian 17 N/A Epiphysis fused ND 17 225/125 ND 19,000 Intracranial hemorrhage
EGY6 R448H/R448H 46,XX M Caucasian/Egyptian 0 4 6.5/5 Still growing 1 75/55 ND 16,100 Atypical genitalia
EGY7 R448H/R448H 46,XY M Caucasian/Egyptian 5 N/A 12/7.5 Still growing ND ND ND 17,000 Pseudoprecocious puberty
EGY8 R448H/R448H 46,XX M Caucasian/Egyptian 3 5 9/6.2 Still growing ND ND N/A 19,000 Atypical genitalia
EGY9 N133H/T319M 46,XX F Caucasian/Egyptian 0.16 4 7.5/6 Still growing 0.333 83/53 ND 16,200 Atypical genitalia
EGY10 N133H/T319M 46,XY M Caucasian/Egyptian 0.08 N/A 5/4.2 Still growing 3 115/65 ND 18,200 Salt wasting
EGY11 N133H/T319M 46,XY M Caucasian/Egyptian 3 N/A 9.5/5.2 Still growing 3 160/110 ND 5,600 Pseudoprecocious puberty
HRV1 T318R/R141Q 46,XY M Croatian 3 N/A 6.3/3 −1.258 2.5 90/45 6,138 ND Precocious puberty (15)
HRV2A E67Kfs*9/R448H 46,XY M Croatian 3 N/A 7/3 −0.279 3 100/60 5,273.8 ND Precocious puberty (15)
HRV2B E67Kfs*9/R448H 46,XY M Croatian 0.25 N/A ND −0.699 0.25 80/50 5,476 ND Brother of HRV2A (15)
HRV3 R448H/c.1398+4A>G 46,XY M Croatian 2.5 N/A 7/2.5 Still growing 2.5 90/50 5,936.6 ND Precocious puberty (19)
IRN1 R43Q/A386V 46,XX F Persian, Iranian 0 4 ND ND 0.75 170/90 ND ND Not given
IRN2A R374W/R374W 46,XY M Kordish/Iranian 3.58 N/A 12.5/3.5 −0.734 9.58 160/110 ND ND Macrophallus
IRN2B R374W/R374W 46,XY M Kordish/Iranian 1.16 N/A 13.5/8.4 −1.15 14.89 170/121 ND ND Macrophallus
IRN3 N394Rfs*37/R448H 46,XY M Persian, Iranian 15.25 N/A 18/15.2 −1.433 15.25 190/120 ND ND Hypertension, severe hyperpigmentation
IRN4 R448C/R448C 46,XX F Persian, Iranian 1.83 4 ND 0.697 2.16 160/100 ND ND Not given
IRN5 R448C/R448C 46,XY M Persian, Iranian 0.91 N/A 10/7.7 ND 4.16 120/82 ND ND High 17OHP, hypertension
IRN6 R448C/R448C 46,XY M Tork Azari, Iranian 2.58 N/A 7/2.5 0.699 2.75 180/120 ND ND Macrophallus, hyperpigmentation, hypertension
IRN7 V252ins3nt/V252ins3nt 46,XY M Persian, Iranian 2.75 N/A 11/9.5 −0.454 12.08 150/100 ND ND Macrophallus, growth of pubic hair (Tanner 3)
IRN8 V252ins3nt/V252ins3nt 46,XX (83%) 45,XO (17%) M Persian, Iranian 0 5 ND 0.155 ND ND ND ND Ambiguous genitalia
IRN31 W116C/W116C 46,XX F Persian, Iranian 0 4 6.83/6.6 −0.465 12.42 170/110 ND ND Ambiguous genitalia
IRN32 N394Rfs*37/N394Rfs*37 46,XY M Persian, Iranian 1.75 N/A 11/8.3 −0.139 ND ND ND ND Macrophallus, acne, virilization
SAU1A H465L/H465L 46,XX F Saudi 0 3 3.5/3.1 Still growing 0.5 105/78 ND 3,720 Ambiguous genitalia
SAU1B H465L/H465L 46,XY M Saudi 3 N/A 11.5/3.3 Still growing 3 132/95 ND 19,800 Precocious puberty
SAU2A Q19Afs*21/Q19Afs*21 46,XX M Saudi 14 5 17/14 −0.31 11 126/69 ND 18,000 Family screen as his sister was diagnosed (20)
SAU2B Q19Afs*21/Q19Afs*21 46,XX M Saudi 10 5 13/10 N/A 2.66 95/48 ND 16,500 Family screen as his sister was diagnosed (20)
SAU2C Q19Afs*21/Q19Afs*21 46,XX M Saudi 16 4 ND N/A 16 140/88 ND 7,590 Breast Tanner IV, short stature, hypertension (20)
SAU3 Q19Afs*21/Q19Afs*21 46,XY M Saudi 7 N/A 14/10 N/A 6 114/74 ND 16,500 Family screen as his sister was diagnosed (20)
SAU4A R448P/R448P 46,XX F Saudi 7 1 12/12 Still growing 9 103/69 ND 1,270 Clitoromegaly, diagnosed at birth with 21OHD
SAU4B R448P/R448P 46,XX F Saudi 0 1 5/3 Still growing 0.069 97/74 ND 23,200 Clitoromegaly
SAU5 R448P/R448P 46,XY M Saudi 7 N/A 12.5/4 Still growing 2.25 118/61 ND 2,210 Precocious puberty
SAU6 W260X/W260X 46,XX ND Saudi 1.33 4 13/5 Still growing 0.5833 98/65 ND 621 Ambiguous genitalia
SAU7 G206V/G206V 46,XX ND Saudi 1.08 3 ND ND 1.25 106/46 ND 7,430 Ambiguous genitalia
TUN1 S217Ifs*42/S217Ifs*42 46,XX ND Arab-Berber/Tunisian (Kairouan) 0 3 ND ND 2 120/90 ND 13,400 Ambiguous genitalia, melanodermia (21)
TUN2A G379V/G379V 46,XX ND Arab-Berber/Tunisian (Kairouan) 0 Not given ND ND 2 120/60 ND ND Ambiguous genitalia, hyperpigmentation
TUN2B G379V/G379V 46,XX ND Arab-Berber/Tunisian (Kairouan) 0 Not given ND ND 6 140/100 ND ND Ambiguous genitalia
TUN3A G379V/G379V 46,XX ND Arab-Berber/Tunisian (Sidi Bouzid) 0 Not given ND ND ND Normotensive ND ND Ambiguous genitalia
TUN3B G379V/G379V 46,XX ND Arab-Berber/Tunisian (Kairouan) 0 Not given 12/8 Still growing ND ND ND ND Ambiguous genitalia, hyperpigmentation, virilization
TUN3C G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 1.75 N/A 12/12 ND 2 120/90 ND ND Melanodermia, macrogenitosomia
TUN3D G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 0 N/A 3/2 Still growing 6 135/80 ND ND Hirsutism, precocious puberty
TUN3E G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 1.08 N/A BA was advanced ND ND Hypertensive ND ND Melanodermia, precocious puberty
TUN4A G379V/ND 46,XX ND Arab-Berber/Tunisian (Kairouan) 0 Not given 6/6 Still growing ND Normotensive ND ND Ambiguous genitalia
TUN4B G379V/G379V 46,XX ND Arab-Berber/Tunisian (Kairouan) 1.08 3 6/3 ND 3 135/90 ND ND Ambiguous genitalia, precocious puberty
TUN5A G379V/G379V 46,XX ND Arab-Berber/Tunisian (Kairouan) 0 4 8/4 Still growing ND ND ND ND Ambiguous genitalia
TUN5B G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 2 N/A BA was advanced ND 12 160/90 ND ND Hyperpigmentation, precocious puberty, melanodermia
TUN5C G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 2 N/A ND ND 3.5 130/100 ND ND Macrogenitosomia, precocious puberty, hyperpigmentation
TUN5D G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 0 N/A ND Still growing 0.5 105/55 ND ND Melanodermia, hypertension
TUN6 G379V/G379V 46,XX ND Arab-Berber/Tunisian (Kairouan) 0 Not given BA not advanced ND ND ND ND ND Ambiguous genitalia, hyperpigmentation
TUN7 G379V/G379V 46,XX ND Arab-Berber/Tunisian (Kairouan) 0 4 ND Still growing ND ND ND ND Ambiguous genitalia
TUN8A G379V/G379V 46,XX ND Arab-Berber/Tunisian (Kairouan) 0 Not given ND Died at 4 months of age ND ND ND ND Ambiguous genitalia
TUN8B G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 1.16 N/A BA was advanced Still growing ND ND ND ND Acceleration of growth, melanodermia
TUN9A G379V/G379V 46,XX ND Arab-Berber/Tunisian (Nabeul) 0 Not given ND Still growing ND ND ND ND Ambiguous genitalia
TUN9B G379V/G379V 46,XY M Arab-Berber/Tunisian (Nabeul) 0 N/A 10/3 ND ND Hypertensive ND ND Precocious puberty
TUN10 G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 2.25 N/A ND ND 2 135/96 ND ND Hyperpigmentation, macrogenitosomia
TUN11A G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 2.5 N/A BA was advanced ND 6 120/95 ND ND Pubic hair, magrogenitosomia
TUN11B G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 3.4 N/A BA was advanced ND ND ND ND ND Precocious puberty, hypertension
TUN12 G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 2 N/A BA was advanced ND 3 120/90 ND ND Precocious puberty, macrogenitosomia
TUN13 G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 0.42 N/A BA was advanced ND 4 120/95 ND ND Precocious puberty, macrogenitosomia
TUN14 G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 2.16 N/A BA was advanced ND 2.2 120/60 ND ND Precocious puberty, macrogenitosomia
TUN15 G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 0 N/A ND ND ND ND ND ND Precocious puberty, macrogenitosomia
TUN16A G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 2 N/A 7/2 ND 3 120/80 ND ND Precocious puberty, hirsutism
TUN16B G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 0 N/A 1.5/0.75 ND ND ND ND ND Hirsutism
TUN17 G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 0.08 N/A N/A ND ND ND ND ND Hirsutism, precocious puberty
TUN18 G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 0.42 N/A 12/7 ND ND ND ND ND Acceleration of growth, melanodermia
TUN19 G379V/G379V 46,XY M Arab-Berber/Tunisian (Kairouan) 2 N/A ND ND ND ND ND ND Macrogenitosomia, precocious puberty
TUR1 R141X/R141X 46,XX F Caucasian/Turkish 0.41 4 ND Still growing 0.416 90/40 ND 10,000 Ambiguous genitalia (16)
TUR2 R141X/R141X 46,XX M Caucasian/Turkish 4.2 5 15.5/9.6 ND 4.3 120/80 ND 10,000 Accelerated growth, penis enlargement, pubic hair (16)
TUR4 L299P/L299P 46,XX M Caucasian/Turkish 2.7 5 7/5.5 ND 2.7 160/110 ND 36,200 Penis enlargement, pubic hair, nonpalpable gonads (16)
TUR5A L299P/L299P 46,XX M Caucasian/Turkish 2.2 5 4.5/2 ND ND ND ND 29,500 Ambiguous genitalia (16)
TUR5B L299P/L299P 46,XY M Caucasian/Turkish 2 N/A 8.5/4.9 ND 2 130/70 ND 10,000 Penis enlargement, pubic hair (16)
TUR8A G446S/G446S 46,XX F Caucasian/Turkish 4.9 2 4.9/8.5 0.279 4.9 80/60 ND 17,900 Premature adrenarche after index case (her brother) (16)
TUR8B G446S/G446S 46,XY M Caucasian/Turkish 7.2 N/A 13/7 −1.11 ND ND ND 14,700 Premature adrenarche, facial acne (16)
USA1A A331V/A331V 46,XX M Sephardic Jewish/Egyptian 0 4 8/5.5 0.465 0 76/45 146 ND Sibling/ambiguous genitalia (14)
USA1B A331V/A331V 46,XX F Sephardic Jewish/Egyptian 1.16 3 15.5/12.6 0.17 ND ND 8,820 ND Ambiguous genitalia (14)
USA2 A331V/A331V 46,XX F Sephardic Jewish, Turkish/Syrian 0 4 11/10 0.5 ND ND 61 170 Ambiguous genitalia
USA3 A331V/A331V 46,XX F Sephardic Jewish, Syrian 0 3 15/13.4 −0.155 3.42 110/60 1,030 ND Ambiguous genitalia
USA4 A331V/A331V 46,XX F Sephardic Jewish/Egyptian 0 ND ND −0.279 ND ND 132 ND Ambiguous genitalia
USA5 A331V/S288R 46,XY M Sephardic Jewish/Syrian 5 N/A 14/9.6 −0.335 6 115/65 177 280 Premature adrenarche
USA6A T318M/T318M 46,XX F Yemeni 0 4 15/13 −1.67 1.02 110/65 2013 ND Ambiguous genitalia (14)
USA6B T318M/T318M 46,XX F Yemeni 0 4 15/11 −0.139 0 80/50 525 ND Sibling/ambiguous genitalia (14)
USA6C T318M/T318M 46,XX F Yemeni Prenatal 1§ 15/10 −2 ND ND 158 ND Sibling (14)
USA7 L106Pfs*18/T318M 46,XX F German, Dutch/Canadian Dutch 0 3 16/15.6 −0.372 2 101/62 222.7 ND Ambiguous genitalia
USA8A F406Pfs*15/F406Pfs*15 46,XX F Mexican 0 ND ND Still growing 0.0055 67/38 36 ND Ambiguous genitalia
USA8B F406Pfs*15/F406Pfs*15 46,XX F Mexican 0 ND ND Still growing 0.0055 61/35 1,260 39,900 Ambiguous genitalia
USA9 F406Pfs*15/F406Pfs*15 46,XX M Mexican/Mexican 0 3 ND Still growing 0.0027 73/44 232 2,000 Ambiguous genitalia
USA11 Q365X/G444D 46,XX F African American 0 2 15/11.5 −1.34 12 150/90 921 ND Ambiguous genitalia (14)
USA12 c.595+1G>A/V441G 46,XY M Caucasian (non-Jewish) Welsh/Irish 1.5 N/A 10.5/7.6 −0.548 3.31 120/80 1,586 58 Rapid growth
USA13 Q426X/Q426X 46,XY M Mexican 1 N/A 2.5/4.4 Still growing ND ND 84 25,450 Public hair but diagnosis only at 2.5 years
USA14 L106Pfs*18/L106Pfs*18 46,XY M Jewish, German/English, Cherokee, French Indian 4.83 N/A 13/4.8 ND ND ND 551 1,000 Premature adrenarche
USA18A N394Tfs*36/N394Tfs*36 46,XY M Hispanic, El Salvadoran 1.5 N/A 7/1.5 ND ND ND ND 19,600 Premature adrenarche (38)
USA18B N394Tfs*36/N394Tfs*36 46,XY M Hispanic, El Salvadoran 0.08 N/A 6/5.7 ND ND ND ND 7,080 Sibling (38)

BA, bone age; BP, blood pressure; CA, chronological age; DBP, diastolic blood pressure; DOC, 11-deoxycorticosterone; N/A, not applicable; ND, not determined; S, 11-deoxycortisol (compound S); SBP, systolic blood pressure; SD, standard deviation.

On medication.

Reassigned to female after being reared as male.

§

Prenatally treated.