Wei Wei, Shaibi Gabriel Q, Cooper-Hastings Laura, Newbern Dorothee
Department of Pediatric Endocrinology, Phoenix Children's, Phoenix, AZ 85006, USA.
JCEM Case Rep. 2024 Dec 13;3(1):luae224. doi: 10.1210/jcemcr/luae224. eCollection 2025 Jan.
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder that causes isolated glucocorticoid deficiency. Here, we report on 22-month-old twin females of Native American ancestry who presented within 1 week of each other in adrenal crisis and were ultimately diagnosed with FGD because of a novel pathogenic variant, c1924G>T (p. Gly642*), in the nicotinamide nucleotide transhydrogenase gene. This is the first report of FGD in a Native American population. The process of reaching the final diagnosis was complicated by several social determinants including geographic rurality, access to subspecialists, financial constraints, and challenges obtaining approval for genetic testing despite having insurance. Concerted efforts by the family, the local pediatrician, the Indian Health Service, and our tertiary care pediatric health system were required to reach the final diagnosis and develop an appropriate plan of care for the patients.
家族性糖皮质激素缺乏症（FGD）是一种罕见的常染色体隐性疾病，可导致单纯性糖皮质激素缺乏。在此，我们报告了两名22个月大的美洲原住民双胞胎女性，她们在一周内先后出现肾上腺危象，最终因烟酰胺核苷酸转氢酶基因中的一种新型致病变体c1924G>T（p.Gly642*）而被诊断为FGD。这是美洲原住民人群中FGD的首例报告。最终诊断过程因多种社会因素而变得复杂，包括地处偏远农村、难以获得专科医生服务、经济限制以及尽管有保险但在获得基因检测批准方面面临的挑战。需要家庭、当地儿科医生、印第安卫生服务机构以及我们的三级护理儿科医疗系统共同努力，才能做出最终诊断并为患者制定适当的护理计划。
