McCann-Crosby Bonnie, Liang Mark C, Geffner Mitchell E, Koppin Christina M, Fraga Nicole R, Sutton V Reid, Karaviti Lefkothea P, Bhullar Gagandeep, Kim Mimi S
Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
Children's Hospital Los Angeles (CHLA), Los Angeles, CA 90027, USA.
Int J Neonatal Screen. 2023 Sep 1;9(3):50. doi: 10.3390/ijns9030050.
Screening for congenital adrenal hyperplasia (CAH) remains heterogenous across geographies-we sought to determine the proportion of non-classical CAH (NCAH) detection by one vs. two newborn screens (NBS) in two U.S. regions. Data were collected at tertiary centers in Houston (HOU) and Los Angeles (LA) on 35 patients with NCAH, comparing patients identified via the NBS vs. during childhood, 17-hydroxyprogesterone (17-OHP) levels, genotype, and phenotype. The NBS filter-paper 17-OHP levels and daily cutoffs were recorded on initial and second screens. In all, 53% of patients with NCAH in the HOU cohort were identified as infants via the second NBS. Patients identified clinically later in childhood presented at a similar age (HOU: = 9, 5.5 ± 3.1 years; LA: = 18, 7.9 ± 4 years) with premature pubarche in almost all. Patients in LA had more virilized phenotypes involving clitoromegaly and precocious puberty and were older at treatment onset compared with those identified in HOU by the second NBS (HOU: 3.2 ± 3.9 years; LA: 7.9 ± 4.0 years, = 0.02). We conclude that the early detection of NCAH could prevent hyperandrogenism and its adverse consequences, with half of the cases in HOU detected via a second NBS. Further studies of genotyping and costs are merited.
先天性肾上腺皮质增生症（CAH）的筛查在不同地区仍存在差异——我们试图确定美国两个地区通过一次与两次新生儿筛查（NBS）检测出的非经典型CAH（NCAH）的比例。在休斯顿（HOU）和洛杉矶（LA）的三级医疗中心收集了35例NCAH患者的数据，比较通过NBS识别的患者与儿童期识别的患者、17-羟孕酮（17-OHP）水平、基因型和表型。记录了初次和第二次筛查时NBS滤纸17-OHP水平及每日临界值。在HOU队列中，53%的NCAH患者通过第二次NBS在婴儿期被识别。童年后期临床诊断出的患者就诊年龄相似（HOU：n = 9，5.5±3.1岁；LA：n = 18，7.9±4岁），几乎所有患者都有阴毛早现。与通过第二次NBS在HOU识别的患者相比，LA的患者有更多涉及阴蒂肥大和性早熟的男性化表型，且治疗开始时年龄更大（HOU：3.2±3.9岁；LA：7.9±4.0岁，P = 0.02）。我们得出结论，NCAH的早期检测可以预防高雄激素血症及其不良后果，HOU队列中有一半的病例通过第二次NBS检测出来。基因分型和成本的进一步研究是有必要的。
