一例罕见的先天性肾上腺皮质发育不全男婴中枢性性早熟病例。

IF 1.3 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-10-30 DOI:10.1515/jpem-2024-0321
Aikaterini Mastoropoulou, Andrew H Lane
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引用次数: 0

摘要

研究目的我们描述了一名患有先天性肾上腺发育不全(Adrenal Hypoplasia Congenita,AHC)的男性患者,其病因是 NR0B1 基因的新型突变,该患者在 9 个月大时被发现患有中枢性性早熟(CPP):病例介绍:一名 3 周大的足月男婴因体温过低和嗜睡就诊,出生后体重下降了 0.3 千克。化验结果与肾上腺危象一致,使用应激剂量氢化可的松(HC)、胰岛素和抗生素后病情稳定,被送入儿科重症监护室。随后的化验结果显示他患有原发性肾上腺功能不全,腹部超声检查显示肾上腺未见明显异常。基因检测发现,NR0B1(DAX-1)的DNA结合域存在一个新的致病性c.707G>A [p.Trp236ter] 无义变异,证实了AHC。患者出院时服用了 HC、氟氢可的松和钠补充剂,耐受性良好,体重间歇性增加,电解质正常。9 个月大时,患者出现性早熟症状,但随着 HC 剂量的增加,这种症状未能自行缓解或减轻,到 15 个月大时,他接受了醋酸亮丙瑞林治疗:在NR0B1发生改变的AHC青少年患者中,有76%出现了性腺功能减退。CPP在AHC患者中的描述并不多见,在这种情况下,CPP的自然史和处理方法尚未确立。我们的观察结果可能有助于了解影响婴儿正常和异常青春期的因素。提高对 AHC 中 CPP 可能性的认识将有助于临床医生在临床和实验室中更早地发现这种并发症。
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A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.

Objectives: We describe a male with Adrenal Hypoplasia Congenita (AHC) caused by a novel mutation in NR0B1, who was noted at 9 months of age to have central precocious puberty (CPP).

Case presentation: A 3-week-old full-term male presented with hypothermia and lethargy, and a 0.3 kg weight loss since birth. Labs were consistent with adrenal crisis, he was stabilized with stress dose hydrocortisone (HC), insulin, and antibiotics, and he was admitted to the Pediatric Intensive Care Unit. Subsequent labs revealed primary adrenal insufficiency with abdominal ultrasound remarkable for nonvisualization of the adrenal glands. Genetic testing identified a novel pathogenic c.707G>A [p.Trp236ter] nonsense variant in the DNA-binding domain of NR0B1 (DAX-1) confirming AHC. The patient was discharged with HC, fludrocortisone, and sodium supplementation with good tolerance and interval weight gain and normal electrolytes. At 9 months of age, the patient developed signs of precocious puberty, which failed to self-resolve or diminish with increased dosing of HC, and by the age of 15 months, he was treated with leuprolide acetate.

Conclusions: Historically, hypogonadotropic hypogonadism has been observed in 76 % of adolescent patients with AHC who have alterations in NR0B1. CPP has been infrequently described in AHC, and the natural history and management of CPP in this setting is not established. Our observations may contribute to the understanding of factors influencing normal and abnormal puberty in infants. Increased awareness of the possibility of CPP in AHC will aid clinicians in the earlier clinical and laboratory detection of this complication.

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来源期刊
CiteScore
2.70
自引率
7.10%
发文量
176
审稿时长
3-6 weeks
期刊介绍: The aim of the Journal of Pediatric Endocrinology and Metabolism (JPEM) is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology. JPEM publishes Reviews, Original Research, Case Reports, Short Communications and Letters to the Editor (including comments on published papers),. JPEM publishes supplements of proceedings and abstracts of pediatric endocrinology and diabetes society meetings.
期刊最新文献
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