内分泌驼:扩大婴儿类伪低甲状腺症1A的表型
Martin Munteanu1, Elisabeth Resch1, Victor Bildheim1
1Department of Pediatrics, Katholisches Klinikum Bochum, Ruhr-University Bochum, Bochum, Germany.
Hormone research in paediatrics
|January 12, 2025
概括
缺活性甲状腺激素 (PTH) /PTHrP信号障碍 (iPPSD) 可以出现严重的早期症状,包括胃肠道,肺和内分泌问题. 早期识别这种GNAS相关疾病对于及时诊断和管理至关重要.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 伪低甲状腺症1A (PHP1A) 是一种关键的甲状腺激素 (PTH) /PTHrP信号障碍 (iPPSD) 的关键性失活性.
- PHP1A表型演变,经常表现出荷尔蒙抵抗性,矮身和切骨瘤,但可以更早,更严重地表现出来.
- 异卵性GNAS变体导致PHP1A,婴儿期发病表明可能出现复杂的表现.
研究的目的:
- 描述具有GNAS变异的婴儿中非活化副甲状腺激素 (PTH) /PTHrP信号障碍 (iPPSD) 的早期和严重表现.
- 突出Gsα缺乏症的扩大表型谱,超出了经典的PHP1A症状.
- 强调在新生儿和婴儿出现不明原因的严重并发症时考虑iPSD的重要性.
主要方法:
- 三名患有异性GNAS变体和婴儿期发病的iPPSD2/PHP1A.A.的患者的病例报告.
- 详细的临床表现,包括胃肠道,肺和内分泌的症状.
- 疾病进展和诊断考虑的审查.
主要成果:
- 患者1:从婴儿期开始的严重腹,提升的TSH,以及发育不良.
- 患者2:新生儿肺部并发症,包括出血和感染,TSH升高.
- 患者3:早期出现的PTH抗性,切骨瘤和肥胖.
结论:
- 婴儿iPSD2/PHP1A的表型谱包括严重的肠道,肺和内分泌问题,可能会延迟诊断.
- 生命早期的表现可能预测在GNAS相关疾病中更严重的疾病过程.
- 婴儿中PTH或TSH升高需要对iPSD进行评估;由于呈现变化,全面查至关重要.
关键词:
和酸盐的新陈代谢.在GNAS中,GNAS是GNAS.内分泌病变的遗传学激素耐药性是一种荷尔蒙耐药性.新生儿内分泌学 新生儿内分泌学甲状腺上腺激素激素的作用副甲状腺激素/PTHrP信号传递障碍伪偏偏皮类甲状腺炎症症.更多相关视频
03:57Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy
Published on: July 14, 2023
1.8K
13:43Two-step Approach to Explore Early- and Late-stages of Organ Formation in the Avian Model: The Thymus and Parathyroid Glands Organogenesis Paradigm
Published on: June 17, 2018
7.4K
相关概念视频
The Parathyroid Glands
1.9K
The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
1.9K
Pleiotropy
39.6K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
39.6K
Adrenal Gland Disorders
1.3K
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
1.3K
Inborn Errors of Metabolism
125
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
125
Hormones and Bone Tissue
2.6K
The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
2.6K
Genomic Imprinting and Inheritance
33.2K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
33.2K
