Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.

IF 6.9 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-10-01 Epub Date: 2024-07-17 DOI:10.1007/s11154-024-09894-w
Kevin Perge, Emilie Capel, Valérie Senée, Cécile Julier, Corinne Vigouroux, Marc Nicolino
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Abstract

SOFT syndrome (Short stature-Onychodysplasia-Facial dysmorphism-hypoTrichosis) is a rare primordial dwarfism syndrome caused by biallelic variants in POC1A encoding a centriolar protein. To refine the phenotypic spectrum of SOFT syndrome, recently shown to include metabolic features, we conducted a systematic review of all published cases (19 studies, including 42 patients). The SOFT tetrad affected only 24 patients (57%), while all cases presented with short stature from birth (median height: -5.5SDS([-8.5]-[-2.8])/adult height: 132.5 cm(103.5-148)), which was most often disproportionate (90.5%), with relative macrocephaly. Bone involvement resulted in short hands and feet (100%), brachydactyly (92.5%), metaphyseal (92%) or epiphyseal (84%) anomalies, and/or sacrum/pelvis hypoplasia (58%). Serum IGF-I was increased (median IGF-I level: + 2 SDS ([-0.5]-[+ 3])). Recombinant human growth hormone (rhGH) therapy was stopped for absence/poor growth response (7/9 patients, 78%) and/or hyperglycemia (4/9 patients, 45%). Among 11 patients evaluated, 10 (91%) presented with central distribution of fat (73%), clinical (64%) and/or biological insulin resistance (IR) (100%, median HOMA-IR: 18), dyslipidemia (80%), and hepatic steatosis (100%). Glucose tolerance abnormalities affected 58% of patients aged over 10 years. Patients harbored biallelic missense (52.4%) or truncating (45.2%) POC1A variants. Biallelic null variants, affecting 36% of patients, were less frequently associated with the SOFT tetrad (33% vs 70% respectively, p = 0.027) as compared to other variants, without difference in the prevalence of metabolic abnormalities. POC1A should be sequenced in children with short stature, altered glucose/insulin homeostasis and/or centripetal fat distribution. In patients with SOFT syndrome, rhGH treatment is not indicated, and IR-related complications should be regularly screened and monitored.PROSPERO registration: CRD42023460876.

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纤毛虫病是导致身材矮小和胰岛素抵抗的原因:关于 SOFT 综合征这一临床关联的系统性综述。
SOFT 综合征(矮小身材-黑质发育不良-面部畸形-低血钾症)是一种罕见的原始侏儒症综合征,由编码向心性蛋白的 POC1A 双重变异引起。为了完善 SOFT 综合征的表型谱,我们对所有已发表的病例(19 项研究,包括 42 名患者)进行了系统回顾。SOFT四联症仅影响了24名患者(57%),而所有病例均表现为出生时身材矮小(中位数身高:-5.5SDS([-8.5]-[-2.8])/成人身高:132.5厘米(103.5-148)),多为比例失调(90.5%),并伴有相对巨头畸形。骨骼受累导致手足短小(100%)、肱骨发育不良(92.5%)、骺端(92%)或骺端(84%)异常和/或骶骨/骨盆发育不良(58%)。血清 IGF-I 增高(IGF-I 水平中位数:+ 2 sds([-0.5%])):+ 2 sds([-0.5]-[+ 3]))。重组人生长激素(rhGH)治疗因缺乏/生长反应差(7/9 例患者,78%)和/或高血糖(4/9 例患者,45%)而停止。在接受评估的 11 名患者中,10 人(91%)出现脂肪中央分布(73%)、临床(64%)和/或生物胰岛素抵抗(IR)(100%,HOMA-IR 中位数:18)、血脂异常(80%)和肝脂肪变性(100%)。58%的 10 岁以上患者出现糖耐量异常。患者携带双侧缺义(52.4%)或截断(45.2%)POC1A 变体。与其他变体相比,双拷贝空变体(影响36%的患者)与SOFT四分体相关的频率较低(分别为33%和70%,p = 0.027),但代谢异常的发生率没有差异。对于身材矮小、葡萄糖/胰岛素平衡改变和/或向心性脂肪分布的儿童,应进行 POC1A 测序。对于SOFT综合征患者,rhGH治疗不适用,应定期筛查和监测与IR相关的并发症:CRD42023460876。
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来源期刊
Reviews in Endocrine & Metabolic Disorders
Reviews in Endocrine & Metabolic Disorders 医学-内分泌学与代谢
CiteScore
14.70
自引率
1.20%
发文量
75
审稿时长
>12 weeks
期刊介绍: Reviews in Endocrine and Metabolic Disorders is an international journal dedicated to the field of endocrinology and metabolism. It aims to provide the latest advancements in this rapidly advancing field to students, clinicians, and researchers. Unlike other journals, each quarterly issue of this review journal focuses on a specific topic and features ten to twelve articles written by world leaders in the field. These articles provide brief overviews of the latest developments, offering insights into both the basic aspects of the disease and its clinical implications. This format allows individuals in all areas of the field, including students, academic clinicians, and practicing clinicians, to understand the disease process and apply their knowledge to their specific areas of interest. The journal also includes selected readings and other essential references to encourage further in-depth exploration of specific topics.
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