Martul P, Pineda J, Levilliers J, Vazquez J A, Rodriguez-Soriano J, Loridan L, Diaz-Perez J L
Division of Pediatric Endocrinology, Hospital de Cruces, Bilbao, Spain.
Clin Endocrinol (Oxf). 1995 Feb;42(2):121-8. doi: 10.1111/j.1365-2265.1995.tb01851.x.
The aim of this study was the endocrinological, enzymatic, and genetic evaluation of a family with a complex syndrome associating hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis and renal malformation.
Hypothalamic-pituitary-testicular function, olfaction, steroid sulphatase activity, and morphological renal studies were assessed. DNA molecular analyses were carried out in all the patients.
Two brothers and their maternal uncle showed the clinical picture of congenital ichthyosis, hypogonadism, hyposmia and unilateral renal maldevelopment.
LH and FSH were determined by RIA basally and after GnRH stimulation, and the test repeated after a period of GnRH priming. Testosterone response to hCG was measured. Arylsulphatase C assay was performed as a measure of steroid sulphatase activity. DNA amplification analysis and Southern blot analysis of four Xp22.3 loci were performed.
Low levels of gonadotophins, basally and after acute GnRH, increased clearly after GnRH priming. Low testosterone levels increased promptly after hCG. Subnormal levels of arylsulphatase C were detected. Hyposmia and renal hypoplasia or aplasia were demonstrated. A large Xp 22.3 deletion including the genes responsible for X-linked ichthyosis (steroid sulphatase deficiency) and Kallmann syndrome was demonstrated.
The absence of the gene encoding steroid sulphatase accounts for the X-linked ichthyosis in these patients, whereas the absence of the Kallmann syndrome gene accounts for hypogonadism, anosmia and for the single kidney found in two of the three patients.
本研究旨在对一个患有复杂综合征的家系进行内分泌、酶学和遗传学评估，该综合征合并低促性腺激素性性腺功能减退、嗅觉减退、X连锁鱼鳞病和肾畸形。
评估下丘脑-垂体-睾丸功能、嗅觉、类固醇硫酸酯酶活性及肾脏形态学。对所有患者进行DNA分子分析。
两名兄弟及其舅舅表现出先天性鱼鳞病、性腺功能减退、嗅觉减退和单侧肾发育不全的临床症状。
基础状态下及GnRH刺激后通过放射免疫分析法测定LH和FSH，并在GnRH预激发一段时间后重复检测。测量睾酮对hCG的反应。进行芳基硫酸酯酶C测定以衡量类固醇硫酸酯酶活性。对四个Xp22.3位点进行DNA扩增分析和Southern印迹分析。
基础状态下及急性GnRH刺激后促性腺激素水平较低，GnRH预激发后明显升高。hCG刺激后低睾酮水平迅速升高。检测到芳基硫酸酯酶C水平低于正常。证实存在嗅觉减退和肾发育不全或发育不全。证实存在一个大的Xp 22.3缺失，包括负责X连锁鱼鳞病（类固醇硫酸酯酶缺乏）和卡尔曼综合征的基因。
编码类固醇硫酸酯酶的基因缺失导致这些患者出现X连锁鱼鳞病，而卡尔曼综合征基因缺失导致性腺功能减退、嗅觉丧失以及三名患者中的两名出现单肾情况。
