Table S1.
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.