Department and Clinic of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University, Polska.
Pediatr Endocrinol Diabetes Metab. 2022;28(4):301-304. doi: 10.5114/pedm.2022.121463.
Silver-Russell syndrome (SRS) is a rare condition, affects one in 100,000 births. Turner syndrome (TS) is a chromosomal disorder, with an incidence of one in 2,500 females. Patient with SRS and mosaic 45, X/46,X,del(X) karyotypes can have a wide range of phenotypic manifestations. The aim of this article is to present a case report of a patient with an extremely rare and not reported so far genetically confirmed diagnose of Silver-Russell syndrome and Turner syndrome.
The patient is a 9-years old girl who had a karyotype of 45,X on prenatal amniocytes. After delivery she was small for gestational age and her phenotype was quite consistent with Russell-Silver syndrome: characteristic dimorphic facial skeleton with a triangular face with prominent forehead, thin nose, hypotonia and hemihyperthrophy. The girl was admitted to hospital due to short stature and deep body weight deficiency. Skin fibroblast and DNA analysis showed mosaic karyotype 45,X[14]/46,X,del(X)(p21.2) and hypomethylation of a gene H19 located on chromosome 11p15. At present the patient is treated with growth hormone in our clinic with good therapeutic results.
The diagnosis of one genetic disorder does not rule out the possibility of a second genetic disease. Early diagnosis of coexistence of two different genetic syndromes, although very difficult, may help with quickly, appropriate therapy for patients and prevent them from developing serious complications.
银- Russell 综合征（SRS）是一种罕见疾病，发病率为每 10 万活产儿中有 1 例。特纳综合征（TS）是一种染色体疾病，发病率为每 2500 名女性中有 1 例。具有 SRS 和镶嵌 45，X/46，X，del（X）核型的患者可能具有广泛的表型表现。本文的目的是报告一例具有极为罕见且迄今尚未报道的遗传证实的 Silver-Russell 综合征和 Turner 综合征的病例报告。
患者是一名 9 岁女孩，产前羊水细胞的核型为 45，X。分娩后，她的生长速度低于胎龄，其表型与 Russell-Silver 综合征非常一致：具有特征性的二态性面部骨骼，三角脸，额头突出，鼻子薄，低张力和偏身肥大。由于身材矮小和深度体重不足，女孩被收治住院。皮肤成纤维细胞和 DNA 分析显示镶嵌核型 45，X[14]/46，X，del（X）（p21.2）和位于 11p15 的基因 H19 低甲基化。目前，该患者在我院接受生长激素治疗，治疗效果良好。
一种遗传疾病的诊断不能排除第二种遗传疾病的可能性。尽管很难早期诊断两种不同的遗传综合征并存，但可能有助于对患者进行快速，适当的治疗，并防止其发生严重并发症。
