Bailey W A, Zwingman T A, Reznik V M, Griswold W R, Mendoza S A, Jones K L, Freidenberg G R
Department of Pediatrics, University of California, San Diego, La Jolla.
Am J Dis Child. 1992 Oct;146(10):1218-23. doi: 10.1001/archpedi.1992.02160220104033.
To determine the cause of absent sexual development in a 17-year-old girl with end-stage renal disease.
Case study.
Seventeen-year-old girl with end-stage renal failure.
None.
MEASUREMENTS/MAIN RESULTS: The patient had phenotypically normal external female genitalia, müllerian duct hypoplasia, and no ovaries. Her serum gonadotropin levels were in the castrate range at baseline and after gonadotropin-releasing hormone stimulation. Her karyotype, in lymphocytes and cultured fibroblasts, was 46,XX. Analysis of genomic DNA, following polymerase chain reaction-amplication with oligonucleotide primers corresponding to the Y-encoded zinc finger protein ZFY and the testis-determining SRY gene, showed Y chromosome material in a male control but none in the patient.
The results suggest a diagnosis of Frasier syndrome, a disorder characterized by true gonadal dysgenesis and end-stage renal disease occurring in normal phenotypic girls. Although previously reported only in individuals with a 46,XX karyotype, our studies indicate that Frasier syndrome may also occur in 46,XX girls. Delayed puberty is not uncommon in renal failure. This case illustrates the importance of measuring gonadotropin levels in teenage girls with delayed puberty and renal failure, particularly if the origin of the renal disease is obscure.
确定一名患有终末期肾病的17岁女孩性发育缺失的原因。
病例研究。
一名患有终末期肾衰竭的17岁女孩。
无。
测量指标/主要结果：患者的外部女性生殖器在表型上正常，苗勒管发育不全，且无卵巢。其血清促性腺激素水平在基线时以及促性腺激素释放激素刺激后处于去势范围内。她淋巴细胞和成纤维细胞培养物中的核型为46,XX。用与Y编码的锌指蛋白ZFY和睾丸决定基因SRY对应的寡核苷酸引物进行聚合酶链反应扩增后对基因组DNA进行分析，结果显示男性对照中有Y染色体物质，而患者中没有。
结果提示诊断为弗雷泽综合征，这是一种以正常表型女孩出现真性性腺发育不全和终末期肾病为特征的疾病。尽管之前仅在核型为46,XX的个体中报道过，但我们的研究表明弗雷泽综合征也可能发生在46,XX女孩中。青春期延迟在肾衰竭中并不罕见。该病例说明了在青春期延迟且患有肾衰竭的少女中测量促性腺激素水平的重要性，尤其是在肾病病因不明的情况下。
