Clinical analysis of 46, XY disorder of sex development

doi:10.3877/cma.j.issn.1673-5250.2022.01.008

Objective

To explore clinical features, treatment and differential diagnosis of complete androgen insensitivity syndrome (CAIS) and 46, XY pure gonadal dysgenesis syndrome (Swyer syndrome), the two most common 46, XY female disorders of sex development (DSD) phenotypes.

Methods

From 2002 to 2020, a total of 41 cases of 46, XY DSD, including 20 cases of CAIS and 21 cases of Swyer syndrome diagonsed in Sun Yat-Sen Memorial Hospital were selected into this study. They were divided into CAIS group (n=21, CAIS patients) and Swyer group (n=21, Swyer patients). Their clinical manifestations, laboratory data, operative conditions and pathological results of the patients were analyzed by retrospective analysis method. The procedure followed in this study met requirements of the Helsinki Declaration of the World Medical Association revised in 2013.

Results

①All the 41 patients were born and raised up as female. The age at first visit was around 12 to 38 years old. There was no significant difference in age between two groups (P>0.05). The height and weight of CAIS group were significantly higher than those of Swyer group (P<0.05). ②There were significantly differences in levels of serum follicle stimulating hormone (FSH), testosterone, estradiol and 17α-hydroxyprogesterone (17α-OHP) between two groups (P<0.05). There were no significant differences in serum luteinizing hormone (LH), prolactin and dehydroepiandrosterone (DHEA) between two groups (P>0.05). The levels of anti-mullerian hormone (AMH) in CAIS group were all > 16 ng/mL, and those in Swyer group were all < 0.03 ng/mL. ③Among 39 cases received surgical treatment, 35 cases underwent laparoscopic bilateral gonadectomy, 4 cases underwent open cytoreductive surgery. ④The incidences of gonadal tumor in CAIS group and Swyer group were 35.0% (7/20), 36.8% (7/19), respectively. Gonads of CAIS patients tended to migrate from fimbria to inguinal canal and in Swyer group, all of gonads were located in pelvic cavity.

Conclusions

Both CAIS and Swyer syndrome belong to 46, XY DSD, the clinical phenotype is similar to some extent, sex hormones and other indicators are different between 2 groups patients, AMH can be used as an important laboratory examination index to distinguish them.

Key words: Sexual development, Androgen insensitivity syndrome, 46, XY disorders of sex development, Gonadal dysgenesis, 46, XY, Gynecologic surgical procedures, Pathology, Women

表1 2组46，XY DSD患者一般临床资料比较[M(P₂₅~P₇₅)]

组别	例数	年龄(岁)	身高(cm)	体重(kg)
CAIS组	20	20.0(16.2~21.0)	165.0(159.5~173.0)	52.0(48.5~60.2)
Swyer组	21	18.0(15.0~23.0)	160.0(148.0~166.0)	45.0(38.8~54.0)
U值		175.500	103.500	118.000
P值		0.367	0.025	0.016

表1 2组46，XY DSD患者一般临床资料比较[M(P₂₅~P₇₅)]

组别	例数	年龄(岁)	身高(cm)	体重(kg)
CAIS组	20	20.0(16.2~21.0)	165.0(159.5~173.0)	52.0(48.5~60.2)
Swyer组	21	18.0(15.0~23.0)	160.0(148.0~166.0)	45.0(38.8~54.0)
U值		175.500	103.500	118.000
P值		0.367	0.025	0.016

表2 2组46，XY DSD患者血清性激素水平比较[M(P₂₅~P₇₅)]

组别	例数	LH(IU/L)	睾酮(nmol/L)	雌二醇(ng/L)	催乳素(μg/L)	17α-OHP (ng/mL)
CAIS组	20	28.4(19.6~45.6)	22.9(15.9~37.4)	35.5(26.0~47.5)	11.1(7.5~17.8)	1.4(0.9~1.9)
Swyer组	21	25.5(15.2~34.7)	0.9(0.6~2.1)	5.4(5.0~13.3)	14.9(10.2~21. 3)	0.7(0.4~0.8)
U值		180.000	0.000	0.000	200.000	11.000
P值		0.434	<0.001	<0.001	0.229	0.019
组别	例数	DHEA(ng/mL)	雌酮(pmol/L)	SHBG(nmol/L)	A2(ng/mL)	FSH
CAIS组	20	2 024.9(543.9~3 290.0)	89.7(45.3~291.0)	58.1(42.6~97.3)	7.2(3.0~21.6)	7.9(3.9~23.3)
Swyer组	21	613.0(573.0~1 161.6)	96.5(61.1~172.5)	53.8(50.3~128.8)	1.2(0.8~1.6)	86.0(61.4~105.5)
U值		23.000	13.000	40.000	1.000	404.000
P值		0.160	0.917	0.626	0.110	<0.001

表2 2组46，XY DSD患者血清性激素水平比较[M(P₂₅~P₇₅)]

组别	例数	LH(IU/L)	睾酮(nmol/L)	雌二醇(ng/L)	催乳素(μg/L)	17α-OHP (ng/mL)
CAIS组	20	28.4(19.6~45.6)	22.9(15.9~37.4)	35.5(26.0~47.5)	11.1(7.5~17.8)	1.4(0.9~1.9)
Swyer组	21	25.5(15.2~34.7)	0.9(0.6~2.1)	5.4(5.0~13.3)	14.9(10.2~21. 3)	0.7(0.4~0.8)
U值		180.000	0.000	0.000	200.000	11.000
P值		0.434	<0.001	<0.001	0.229	0.019
组别	例数	DHEA(ng/mL)	雌酮(pmol/L)	SHBG(nmol/L)	A2(ng/mL)	FSH
CAIS组	20	2 024.9(543.9~3 290.0)	89.7(45.3~291.0)	58.1(42.6~97.3)	7.2(3.0~21.6)	7.9(3.9~23.3)
Swyer组	21	613.0(573.0~1 161.6)	96.5(61.1~172.5)	53.8(50.3~128.8)	1.2(0.8~1.6)	86.0(61.4~105.5)
U值		23.000	13.000	40.000	1.000	404.000
P值		0.160	0.917	0.626	0.110	<0.001

表3 2组46，XY DSD并发性腺肿瘤患者的一般临床资料比较[M(P₂₅~P₇₅)]

组别	例数	年龄(岁)	身高(cm)	体重(kg)
CAIS组	7	21(18~33)	165.0(164.0~173.0)	51.0(48.0~63.0)
Swyer组	7	17(15~24)	164.5(156.0~170.5)	51.5(40.0~63.0)
U值		11.000	17.000	21.500
P值		0.084	0.566	0.701

表3 2组46，XY DSD并发性腺肿瘤患者的一般临床资料比较[M(P₂₅~P₇₅)]

组别	例数	年龄(岁)	身高(cm)	体重(kg)
CAIS组	7	21(18~33)	165.0(164.0~173.0)	51.0(48.0~63.0)
Swyer组	7	17(15~24)	164.5(156.0~170.5)	51.5(40.0~63.0)
U值		11.000	17.000	21.500
P值		0.084	0.566	0.701

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