Lee Justin, Pillai Sabitha Sasidharan, Ganta Avani, Phornphutkul Chanika, Quintos Jose Bernardo
Department of Biology, Brown University, Providence, Rhode Island.
Division of Pediatric Endocrinology and Diabetes, Rhode Island Hospital/Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, Providence, Rhode Island.
AACE Clin Case Rep. 2024 May 28;10(5):174-178. doi: 10.1016/j.aace.2024.05.002. eCollection 2024 Sep-Oct.
BACKGROUND/OBJECTIVE: We present an adolescent male with Noonan syndrome (NS) and celiac disease (CD) who attained normal adult height with growth hormone (GH) treatment and gluten-free diet (GFD).
A 15 ½ year old healthy male presented with short stature and delayed puberty. His mother and maternal grandmother were short with heights 142.2 cm and 147.3 cm, respectively. Examination showed bilateral epicanthal folds and down slanting eyes like his mother, fifth finger clinodactyly, height 147.5 cm (<1%; standard deviation score, -2.96), growth velocity 2.5 cm/y, weight 48.2 kg (11%; standard deviation score, -1.24), Tanner 2 pubic hair and Tanner 1 genitalia. Midparental target height was 169.1 cm. He had normal screening studies for GH deficiency and thyroid disorders, prepubertal gonadotropins and testosterone levels, and normal total immunoglobulin A, and elevated antitissue transglutaminase immunoglobulin A 134.7units/mL (0-20). Bone age was 13 years. Genetic evaluation revealed heterozygous missense variant of gene in him and his mother confirming a diagnosis of NS. He was diagnosed with CD by intestinal biopsy. Patient was started on GH therapy and a GFD with subsequent improvement in growth velocit (6.8-12.3 cm/y) and advancement of puberty. The patient stopped GH therapy at 17 ½ years with a height 165.9 cm.
Coexistence of NS caused by missense variant and CD has not been previously reported. Our patient attained normal adult height with GH therapy and GFD.
NS and CD can co-occur and addressing both these disorders can help patients attain normal height potential.
背景/目的：我们报告一名患有努南综合征（NS）和乳糜泻（CD）的青少年男性，他通过生长激素（GH）治疗和无麸质饮食（GFD）达到了正常成人身高。
一名15岁半的健康男性因身材矮小和青春期延迟前来就诊。他的母亲和外祖母身材矮小，身高分别为142.2厘米和147.3厘米。体格检查发现他有双侧内眦赘皮和向下倾斜的眼睛，与他母亲相似，第五指 clinodactyly，身高147.5厘米（<1%；标准差评分，-2.96），生长速度2.5厘米/年，体重48.2千克（11%；标准差评分，-1.24），坦纳2期阴毛和坦纳1期生殖器。父母平均身高目标为169.1厘米。他的生长激素缺乏和甲状腺疾病筛查、青春期前促性腺激素和睾酮水平、总免疫球蛋白A正常，抗组织转谷氨酰胺酶免疫球蛋白A升高至134.7单位/毫升（0 - 20）。骨龄为13岁。基因评估显示他和他母亲的基因存在杂合错义变异，确诊为NS。经肠道活检他被诊断为CD。患者开始接受GH治疗和GFD，随后生长速度有所改善（6.8 - 12.3厘米/年），青春期进展。患者在17岁半时身高达到165.9厘米，停止了GH治疗。
由错义变异引起的NS和CD共存此前未见报道。我们的患者通过GH治疗和GFD达到了正常成人身高。
NS和CD可能同时发生，针对这两种疾病进行治疗有助于患者达到正常身高潜力。
