未经评估:儿童和青少年肥胖的患病率在全球范围内以及印度都在增加。Prader-Willi综合征(PWS)是综合征性肥胖的最常见原因之一,在不同的寿命范围内具有不同的临床表现。随此,我们描述了在三级医院肥胖诊所诊断的8例PWS的临床和分子特征.
UNASSIGNED:在2014年1月至2022年1月期间筛查了临床疑似病例。进行了详细的病史和临床检查,以寻找PWS的典型特征,例如特征性面部外观,身材矮小,肥胖,食欲亢进,青春期延迟或性腺机能减退,糖尿病,发育迟缓,认知功能障碍,学习障碍或异常行为。所有人都进行了评估,75克口服葡萄糖耐量试验(GTT),HbA1c,游离T4,TSH,LH,FSH,睾丸激素,和生长激素水平。精神科医生使用Binet-Kamat测试评估每位患者的智商(IQ)。通过甲基化特异性聚合酶链反应(MS-PCR)或荧光原位杂交(FISH)方法进行临床怀疑的PWS的分子确认。
根据临床和分子特征,八人被诊断为PWS。除了一个,都是男性,有特征性的相,研究队列的平均年龄为12岁,平均BMI为44.58.肥胖,身材矮小,食欲亢进,低张力,在整个(100%)PWS研究人群中,轻度至中度智力低下。所有男性PWS患者都有隐睾,6例患者为双侧,1例患者为单侧(右下颌睾丸)。除了肥胖,身材矮小,其他内分泌关联为50%的PWS患者有糖尿病和37%的PWS患者有亚临床甲状腺功能减退症.通过7种甲基化特异性PCR和1种FISH方法证实了PWS的分子特征。
未经评估:如果儿童或青少年患有身材矮小的肥胖,应牢记Prader-Willi综合征,低张力,隐睾,和发育迟缓或认知功能障碍。在所有临床疑似病例中应明智地使用分子诊断测试。多学科团队对这种复杂疾病的早期诊断和适当管理将改善生活质量和治疗结果。
UNASSIGNED: The prevalence of childhood and adolescent obesity is increasing worldwide as well as in India. Prader--Willi syndrome (PWS) is one of the most common causes of syndromic obesity with varied clinical manifestations across different lifespan. Herewith, we describe clinical and molecular characteristics of eight PWS who were diagnosed in an obesity clinic of tertiary care hospital.
UNASSIGNED: Clinically suspected cases of PWS were screened between January 2014 and January 2022. Detailed history and clinical examination were done to look for typical features of PWS like characteristic facial appearance, short stature, obesity, hyperphagia, delayed puberty or hypogonadism, diabetes mellitus, developmental delay, cognitive dysfunction, learning disabilities or abnormal behavior. All were evaluated, with 75 g oral glucose tolerance tests (GTT), HbA1c, Free T4, TSH, LH, FSH, testosterone, and growth hormone level. Intelligent quotient (IQ) of each patient was assessed by a psychiatrist using Binet-Kamat test. Molecular confirmation of clinically suspected PWS was done by either Methylation-specific polymerase chain reaction (MS-PCR) or Fluorescence in situ Hybridization (FISH) methods.
UNASSIGNED: Based on clinical and molecular characteristics, eight were diagnosed as PWS. Except one, all were male with characteristic facies, mean age of study cohort was 12 years and mean BMI of 44.58. Obesity, short stature, hyperphagia, hypotonia, and mild to moderate mental retardation were noted in entire (100%) PWS study population. All male PWS patients had cryptorchidism, which was bilateral in six patients and unilateral (right undescended testes) in one. Apart from obesity, short stature, other endocrine associations noted were diabetes mellitus in 50% and subclinical hypothyroidism in 37% of PWS. Molecular characteristics of PWS were confirmed by Methylation-specific PCR in seven and by FISH method in one.
UNASSIGNED: Prader-Willi syndrome should be kept in mind in case of childhood or adolescent obesity with short stature, hypotonia, cryptorchidism, and developmental delay or cognitive dysfunction. Judicious use of molecular diagnostic testing should be made in all clinically suspected cases. Early diagnosis and appropriate management of this complex disorder by a multidisciplinary team will improve the quality of life and treatment outcome.