Gonadal dysgenesis from a gynecologic perspective

被引：3

作者：

Frank-Herrmann P. ^{[1
]}

Strowitzki T. ^{[1
]}

机构：

[1] Abteilung für Gynäkologische Endokrinologie und Fertilitätsstörungen, Universitätsfrauenklinik Heidelberg, 69115 Heidelberg

来源：

Der Gynäkologe | 2012年 / 45卷 / 9期

关键词：

Gonadal dysgenesis; Hypergonadotropic hypogonadism; Intersexuality; Primary amenorrhea; Primary ovarian insufficiency;

D O I：

10.1007/s00129-012-3010-0

中图分类号：

学科分类号：

摘要：

Gonadal dysgenesis (GD) belongs to the group of disorders/differences of sex development (DSD) and is based on an inborn faulty or missing development of the gonads. In complete loss of function or if no testosterone and no testicular anti-mullerian hormone (AMH) is produced, streak gonads and a female phenotype (usually with uterus) arise even in cases of a male karyogram. Leading symptom is primary, hypergonadotropic amenorrhea with normal body height and usually without associated anomalies, with the exception of the Turner syndrome and other rare syndromes. A partial loss of function of the gonads leads to premature ovarian failure (POF) in 46,XX GD and to ambiguous external genitalia in 46,XY GD. In cases with Y in the karyogram, the gonads must be removed due to the risk of up to 30% of malignant development. Associated anomalies, adrenocortical insufficiency and short stature necessitate an interdisciplinary approach, hormone therapy for induction of breast development and prevention of osteoporosis should be initiated by gynecologists. © Springer-Verlag 2012.

引用

页码：695 / 704

页数：9

共 17 条

[1]

Besonderheiten der geschlechtsentwicklung, Ethische Grundsätze Und Empfehlungen Bei DSD, 156, pp. 241-245, (2008)

[2]

Binder G., Martin D., Schweizer R., Et al., Adrenarche und pubarche beim turner syndrom, J Endocrinol Metab, 89, pp. 1164-1168, (2004)

[3]

Cools M., Pleskacova J., Stoop H., Et al., Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45, X/46, XY mosaicism, J Clin Endocrinol Metab, 7, pp. 1171-1180, (2011)

[4]

Hauffa B.P., Simic-Schleicher G., Pubertas Tarda Und Hypogonadismus, (2011)

[5]

Hiort O., Holterhus P.M., The molecular basis of male sexual differentiation, Eur J Endocrinol, 142, pp. 101-110, (2000)

[6]

Hiort O., Reinecke S., Thyen U., Et al., Puberty in disorders of somatosexual differentiation, J Pediatr Endocrinol Metab, 16, SUPPL. 2, pp. 297-306, (2003)

[7]

Holterhus P.M., Werner R., Hoppe U., Et al., Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations, J Molecul Med, 83, pp. 1005-1013, (2005)

[8]

Holterhus P.M., Kohler B., Korsch E., Richter-Unruh A., Störungen der geschlechtsentwicklung, Leitlinie der Gesellschaft für Kinderheilkunde und Jugendmedizin DGKJ, (2010)

[9]

Labrie F., Luu T., Labrie C., Simard J., DHEA and its transformation into androgens and estrogens in peripheral target tissues: Intra-crinology, Front Neuroendocrinol, 22, 3, pp. 185-212, (2001)

[10]

Ledig S., Ropke A., Haeusler G., Et al., BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure, Am J Obstet Gynecol, 1, pp. 84-85, (2008)

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