Background
Subjects and methods
Subjects
External genital phenotype evaluation
Hormonal analysis
AR gene analysis
Statistical analysis
Results
Clinical manifestations
AIS | Non-cryptorchidism | Cryptorchidism | Total cryptorchidism | Ratio |
---|---|---|---|---|
CAIS | 0 | 19 | 19 | 100% |
PAIS | 9 | 11 | 20 | 55% |
Total | 9 | 30 | 39 |
AIS | Inguinal cryptorchidism | Intra-abdominal cryptorchidism | Total cryptorchidism | Ratio |
---|---|---|---|---|
CAIS | 14 | 5 | 19 | 73.68% |
PAIS | 10 | 1 | 11 | 90.9% |
Total | 23 | 6 | 30 |
Hormones
Hormones | Group | Median or \( \overline{\mathbf{X}} \) ±SD (nmol/L) | Range | N | P value |
---|---|---|---|---|---|
AMH (ng/mL) | CAIS | 32.60 | (19.02–146.38) | 9 | 0.010 |
PAIS | 154.71 | (14.77–755.80) | 16 | ||
Oestradiol (pmol/L) | CAIS | 73 | (73.00–110.00) | 18 | 0.303 |
PAIS | 73 | (73.00–202.00) | 20 | ||
Basal LH (IU/L) | CAIS | 1.18 | (0.36–4.93) | 18 | 0.762 |
PAIS | 1.085 | (0.20–5.11) | 20 | ||
Basal T (nmol/L) | CAIS | 1.105 | (0.35–4.80) | 18 | 0.303 |
PAIS | 0.46 | (0.35–8.96) | 20 | ||
T after HCG stimulation (nmol/L) | CAIS | 10.61 | (5.65–20.82) | 18 | 0.072 |
PAIS | 16.4 | (4.15–54.00) | 20 | ||
Basal DHT (pg/ml) | CAIS | 70.69 | (12.16–514.34) | 18 | 0.331 |
PAIS | 45.4 | (12.16–980.23) | 20 | ||
DHT after HCG stimulation (pg/ml) | CAIS | 255.8 | (42.00–491.42) | 18 | 0.762 |
PAIS | 234.13 | (80.57–1006.37) | 20 | ||
Basal FSH (IU/L) | CAIS | 4.05 | (1.29–29.32) | 18 | 0.009 |
PAIS | 1.735 | (0.65–6.26) | 20 | ||
Peak FSH (IU/L) | CAIS | 13.65 | (3.03–67.54) | 18 | 0.033 |
PAIS | 5.45 | (0.99–35.99) | 20 | ||
T:DHT ratio | CAIS | 8.04 | (3.67–34.42) | 18 | 0.228 |
PAIS | 13.815 | (2.74–26.75) | 20 | ||
INHB (pg/mL) | CAIS | 263.06 ± 33.62 | (172.94–424.66) | 9 | 0.548 |
PAIS | 231.88 ± 33.26 | (57.48–493.50) | 16 | ||
Peak LH (IU/L) | CAIS | 27.39 ± 3.18 | (8.51–50.29) | 18 | 0.033 |
PAIS | 18.86 ± 2.25 | (1.02–35.19) | 20 | ||
SHBG (nmol/l) | CAIS | 122.46 ± 10.82 | (22.70–195.70) | 18 | 0.348 |
PAIS | 108.89 ± 9.39 | (35.20–177.70) | 20 | 0.010 |
Molecular studies
AIS | Sex | Age (yr) | Testis position | Mutation | Novel | Exon | Amino Acid | PolyPhen-2 | Family history |
---|---|---|---|---|---|---|---|---|---|
C1 | F | 1.3 | inguinal region | c.2107 T > C | Y | 4, LBD | p. Ser 703 Pro | 1.000 | Y |
C2 | F | 1.6 | abdomen | c.2107 T > C | Y | 4, LBD | p. Ser703 Pro | 1.000 | Y |
C3 | F | 0.4 | inguinal region | c.2740C > G | Y | 8, LBD | p. Pro 914 Ala | 0.609 | n.a |
C4 | F | 1.1 | inguinal region | c.2351A > G | Y | 6, LBD | p. Gln 784 Arg | 0.998 | n.a |
C5 | F | 2.6 | inguinal region | c.2024 T > A, | Y | 4, LBD | p.Leu675Gln | 0.999 | n.a |
C6 | F | 4.4 | inguinal region | c.2522G > A | N | 7, LBD | p.Arg841His | 1.000 | Y |
C7 | F | 2.1 | abdomen | c.1768 + 1G > C | Y | Intron | Change the shearing mode | U | N |
C8 | F | 2.9 | inguinal region | c.2567G > A | N | 7, LBD | p. Arg 856 His | 1.000 | n.a |
C9 | F | 2.3 | abdomen | c.1684A > T | Y | 2, DBD | p.Ile562Phe | 0.999 | n.a |
C10 | F | 1 | inguinal region | c.2522G > A | N | 7, LBD | p.Arg841His | 1.000 | Y |
C11 | F | 3.8 | inguinal region | c.2086G > A | N | 4, LBD | p.Asp696Asn | 0.999 | N |
C12 | F | 3.8 | inguinal region | c.2324G > A | N | 6, LBD | p.Arg775His | 1.000 | N |
C13 | F | 1.8 | inguinal region | c.2645 T > C | N | 8, LBD | p.Leu882Pro | 1.000 | Y |
C14 | F | 13.7 | abdomen | c.2117A > G | N | 4, LBD | p.Asn706Ser | 0.999 | Y |
C15 | F | 2.1 | inguinal region | c.2522G > A | N | 7, LBD | p.Arg841His | 1.000 | n.a |
C16 | F | 1.2 | inguinal region | c.2290 T>C | N | 5, LBD | p.Tyr764His | 1.000 | Y |
C17 | F | 2.8 | abdomen | c.2678C > T | N | 8, LBD | p.Pro893Leu | 1.000 | Y |
C18 | F | 10.8 | inguinal region | c.1858 T > C | N | 3, DBD | p. Cys620Arg | 1.000 | Y |
C19 | F | 1.4 | inguinal region | c.1415_1416insCGGC | Y | 1, NTD | p. Gly 472 fs | U | Y |
P1 | M | 6.8 | inguinal region | c.2612C > G | N | 8, LBD | p.Ala871Gly | 0.999 | n.a |
P2 | M | 1 | scrotum | c.2521C > T | N | 7, LBD | p.Arg841Cys, | 1.000 | n.a |
P3 | M | 1.5 | inguinal region | c.1063G > T | N | 1, NTD | p.Glu355Term | U | Y |
P4 | M | 1.9 | scrotum | c.2104C > A | N | 4, LBD | p.Leu702Ile | 0.995 | Y |
P5 | M | 1.9 | scrotum | C.528C>A | N | 1, NTD | p.Ser176Arg | 0.842 | n.a |
P6 | M | 1.1 | scrotum | c.2612C > T | N | 8, LBD | p.Ala871Val | 0.994 | Y |
P7 | M | 1.6 | scrotum | c.2531C > A | N | 7, LBD | p.Ala844Glu | 0.989 | n.a |
P8 | M | 0.9 | scrotum | c.2531C > A | N | 7, LBD | p.Ala844Glu | 0.989 | n.a |
P9 | M | 1 | scrotum | c.2338C > T | N | 6, LBD | p.Arg780Trp | 1.000 | Y |
P10 | M | 9.7 | scrotum | c.528C > A | N | 1, NTD | p.Ser176Arg | 0.842 | n.a |
P11 | M | 1,4 | inguinal region | c.2221 T > A | Y | 5, LBD | p.Ser741Thr | 0.555 | Y |
P12 | M | 2.4 | abdomen | c.1705G > T | N | 2, DBD | p.Gly569Trp | 1.000 | n.a |
P13 | M | 1 | inguinal region | c.2567G > A | N | 7, LBD | p. Arg 856 His | 1.000 | n.a |
P14 | M | 1.8 | inguinal region | c.2441 T > A | Y | 6, LBD | p. Phe814Tyr | 0.999 | n.a |
P15 | M | 1.1 | scrotum | c.2638G > T, | N | 8, LBD | p. Asp880 Tyr | 1.000 | Y |
P16 | F | 1.2 | inguinal region | c.2450-42G > A | Y | 7, LBD | U | U | Y |
P17 | F | 1.7 | scrotum | c.2450-42G > A | Y | 7, LBD | U | U | Y |
P18 | M | 6.7 | inguinal region | 1823G > A | N | 3, DBD | p.Arg608Gln | 1.000 | Y |
P19 | M | 10.7 | inguinal region | c.170_172dup | N | 1, NTD | p.Leu57dup | U | Y |
P20 | F | 1.3 | inguinal region | c.2740C > T | N | 8, LBD | p.Pro914Ser | 0.996 | Y |