{"id":10944,"date":"2025-05-14T11:15:28","date_gmt":"2025-05-14T11:15:28","guid":{"rendered":"https:\/\/sescs.es\/?p=10944"},"modified":"2025-05-14T16:10:50","modified_gmt":"2025-05-14T16:10:50","slug":"early-detection-and-treatment-in-nkx2-1-disorders","status":"publish","type":"post","link":"https:\/\/sescs.es\/en\/early-detection-and-treatment-in-nkx2-1-disorders\/","title":{"rendered":"SESCS PUBLICATION: The Importance of Early Detection and Treatment in NKX2-1-Related Disorders"},"content":{"rendered":"

1) Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis<\/strong><\/p>\n

Beatriz Carmona Hidalgo, Carmen Mart\u00edn-G\u00f3mez, Estefan\u00eda Herrera-Ramos, Roc\u00edo Rodr\u00edguez-L\u00f3pez, Laia-Nou Fontanet, Jos\u00e9 C Moreno, Juan Antonio Blasco-Amaro, Juliane L\u00e9ger, Juan Dar\u00edo Ortigoza Escobar, Grupo de trabajo de directrices sobre trastornos relacionados con NKX2-1<\/p>\n

ABSTRACT<\/p>\n

Background:\u00a0<\/strong>NKX2-1-related disorders (NKX2-1-RD) are rare conditions affecting lung, thyroid, and brain development, primarily caused by pathogenic variants or deletions in the NKX2-1 gene. Congenital hypothyroidism (CH) is a common endocrine manifestation, leading to irreversible intellectual disability if left untreated.<\/p>\n

Objectives:\u00a0<\/strong>The aim was to evaluate the current evidence for the use of screening and diagnostic techniques for endocrine alterations in patients with NKX2-1-RD.<\/p>\n

Methods:\u00a0<\/strong>This systematic review was reported following the PRISMA guidelines. Two separate research questions in PICO format were addressed to cover initial screening and diagnosis procedures for endocrine diseases in patients with NKX2-1-RD. Eligibility criteria focused on patients with genetic confirmation of the disease and hypothyroidism. Various databases were searched, and data were extracted and assessed independently by two reviewers.<\/p>\n

Results:\u00a0<\/strong>Out of 1012 potentially relevant studies, 46 were included, for a total of 113 patients. CH was the most frequent endocrine alteration (45% of patients). Neonatal screening was reported in only 21% of patients based on blood TSH measurements. TSH thresholds varied widely across studies, making hypothyroidism detection ranges difficult to establish. Diagnostic tests using serum TSH were used to diagnose hypothyroidism or confirm its presence. 35% of patients were diagnosed at neonatal age, and 42% at adult age. Other hormonal dysfunctions identified due to clinical signs, such as anterior pituitary deficiencies, were detected later in life. Thyroid scintigraphy and ultrasonography allowed for the description of the thyroid gland in 30% of cases of hypothyroidism. Phenotypic variability was observed in individuals with the same variants, making genotype-phenotype correlations challenging.<\/p>\n

Conclusion:\u00a0<\/strong>This review highlights the need for standardized protocols in endocrine screening for NKX2-1-RD, emphasizing the importance of consistent methodology and hormone threshold levels. Variability in NKX2-1 gene variants further complicates diagnostic efforts. Future research should concentrate on optimizing early screening protocols and diagnostic strategies.<\/p>\n

You can read the full article here<\/a>.<\/p>\n

 <\/p>\n

2) Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up<\/strong><\/p>\n

Beatriz Carmona Hidalgo, Estefan\u00eda Herrera-Ramos, Roc\u00edo Rodr\u00edguez-L\u00f3pez, Laia Nou-Fontanet, Jos\u00e9 C Moreno, Juan Antonio Blasco-Amaro, Juliane L\u00e9ger, Juan Dar\u00edo Ortigoza Escobar, Grupo de trabajo de directrices sobre trastornos relacionados con NKX2-1<\/p>\n

ABSTRACT<\/p>\n

Background:\u00a0<\/strong>NKX2-1, a crucial transcription factor in thyroid, lung, and brain development, is associated with rare disorders featuring thyroid dysfunction, neurological abnormalities, and respiratory symptoms. The primary challenge in managing NKX2-1-related disorders (NKX2-1-RD) is early diagnosis of the genetic defect and treating specific endocrine disorders. Levothyroxine (LT4) serves as the standard hypothyroidism treatment, with required dosages influenced by the severity of the individual’s disorder, which varies widely among affected individuals.<\/p>\n

Objectives:\u00a0<\/strong>This systematic review aims to assess the effectiveness of LT4 treatment in NKX2-1-RD and explore optimal dosing strategies. The primary focus is on the challenges associated with the prompt diagnosis of genetic defects, rather than the established treatment protocols for individual endocrine failures.<\/p>\n

Methods:\u00a0<\/strong>Adhering to PRISMA guidelines, the review includes 42 studies involving 110 genetically confirmed NKX2-1-RD patients with hypothyroidism. The study investigates congenital hypothyroidism as the most prevalent endocrine alteration, along with gestational and overt hypothyroidism. The administration of LT4 treatment, dosages, and patient responses are analyzed.<\/p>\n

Results:\u00a0<\/strong>Among the findings, congenital hypothyroidism emerges as the predominant endocrine alteration in 41% of patients. Notably, LT4 treatment is administered in only 10% of cases, with a mean dose of 52 \u03bcg\/day. The variability in initiation and dosage is likely influenced by the age at diagnosis. Positive responses, characterized by TSH adjustments within normal ranges, are observed in 11 monitored patients.<\/p>\n

Conclusions:\u00a0<\/strong>Early detection of congenital hypothyroidism is emphasized for timely LT4 initiation. Challenges in standardization are highlighted due to the variability in clinical manifestations and diagnostic procedures across NKX2-1-RD cases. While this review provides valuable insights into thyroid and pituitary disease treatment, limited details on LT4 treatment represent a significant study limitation. Key reporting points for future case studies are proposed to enhance the understanding and management of NKX2-1-RD hypothyroidism.<\/p>\n

You can read the full article here<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"

1) Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis Beatriz Carmona Hidalgo, Carmen Mart\u00edn-G\u00f3mez, Estefan\u00eda Herrera-Ramos, Roc\u00edo … <\/p>\n","protected":false},"author":3,"featured_media":6868,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"ngg_post_thumbnail":0,"footnotes":""},"categories":[229,105],"tags":[361,363,362,359,366,360,364,358,357,307,365],"class_list":["post-10944","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-featured","category-news","tag-detection","tag-disorders","tag-early-treatment","tag-endocrinology","tag-ern-guidelines-en","tag-genetics","tag-hypothyroidism","tag-medical-research","tag-public-health","tag-red-ets-en","tag-sescs-en"],"yoast_head":"\nSESCS PUBLICATION: The Importance of Early Detection and Treatment in NKX2-1-Related Disorders | SESCS<\/title>\n<meta name=\"description\" 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