Hernandez Maria Isabel, Castro Andrea, Bacallao Ketty, Avila Alejandra, Espinoza Aníbal, Trejo Leon, Iñiguez Germán, Codner Ethel, Cassorla Fernando
Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile, Santa Rosa 1234, 2nd floor IDIMI, Casilla, 226-3 Santiago, Chile.
Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile, Santa Rosa 1234, 2nd floor IDIMI, Casilla, 226-3 Santiago, Chile ; Departments of Pediatrics, Hospital Clínico San Borja Arriarán, Santiago, Chile.
Int J Pediatr Endocrinol. 2014;2014(1):6. doi: 10.1186/1687-9856-2014-6. Epub 2014 Apr 18.
Prepubertal hypertrichosis is a reportedly benign condition characterized by an excessive growth of vellous hair in non-androgen dependent areas of the body compared to the amount usually present in normal subjects of the same age, race and sex. Although this condition is usually considered idiopathic and regarded as benign, it may be very disturbing cosmetically, causing significant patient and parental anxiety.
We performed a hormonal and androgen receptor study in 42 prepubertal girls with hypertrichosis and 29 control girls from 2 to 8 years of age. Both groups underwent a determination of basal LH, FSH, 17OH progesterone, androstenedione, testosterone, estradiol and SHBG, abdominal ultrasound to assess ovarian morphology, and the number of androgen receptor CAG/GGC repeats in DNA obtained from peripheral leukocytes.
The hypertrichosis score was higher in the cases compared to controls. Serum gonadotropins and sex steroids were similar in both groups, but SHBG was significantly lower in the girls with hypertrichosis (71.1 ± 2.9 vs 81.9 ± 3.0 nmol/L, p < 0.02). The distribution of shorter, larger and total alleles was not statistically different between cases and controls. The combined analysis of CAG/GGC, however, showed a significantly higher prevalence of the most androgen-sensitive haplotypes (1-2: <22CAG + 17/17GGC- < 14CAG + 17/18GGC) in girls with hypertrichosis compared to controls.
We conclude that girls with hypertrychosis exhibit AR(s) with enhanced sensitivity, which may facilitate the growth of their body hair.
据报道,青春期前多毛症是一种良性病症,其特征是与同年龄、种族和性别的正常受试者相比,身体非雄激素依赖区域的绒毛过度生长。尽管这种病症通常被认为是特发性的且为良性,但在外观上可能非常令人困扰,导致患者及其父母产生显著焦虑。
我们对42名患有多毛症的青春期前女孩和29名2至8岁的对照女孩进行了激素和雄激素受体研究。两组均进行了基础促黄体生成素(LH)、促卵泡生成素(FSH)、17α-羟孕酮、雄烯二酮、睾酮、雌二醇和性激素结合球蛋白(SHBG)的测定,进行腹部超声检查以评估卵巢形态,并对从外周血白细胞获得的DNA中的雄激素受体CAG/GGC重复序列数量进行检测。
与对照组相比,病例组的多毛症评分更高。两组的血清促性腺激素和性类固醇相似,但多毛症女孩的SHBG显著更低(71.1±2.9对81.9±3.0nmol/L,p<0.02)。病例组和对照组之间较短、较长和总等位基因的分布无统计学差异。然而,CAG/GGC的联合分析显示,与对照组相比,多毛症女孩中最敏感的雄激素单倍型(1-2:<22CAG+17/17GGC-<14CAG+17/18GGC)的患病率显著更高。
我们得出结论,患有多毛症的女孩表现出敏感性增强的雄激素受体,这可能促进她们体毛的生长。