{"orpha":171706,"name":"Short stature-delayed bone age due to thyroid hormone metabolism deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171706/","orphanet_url":"https://www.orpha.net/en/disease/detail/171706","names":{"fr":{"name":"Petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne","definition":"La petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne est une hypothyroïdie congénitale génétique rare caractérisée par un léger retard de développement global dans l'enfance, une petite taille, un retard de l'âge osseux, une anomalie de la thyroïde et des taux anormaux de sélénium sérique (concentrations élevées de T4 libre et total, faibles taux de T3, forts taux de T3 reverse, taux normaux ou élevés de TSH, diminution des taux de sélénium). Un déficit intellectuel, une infertilité primaire, une hypotonie, une faiblesse musculaire et un trouble de l'audition ont aussi été rapportés."},"de":{"name":"Kleinwuchs - retardiertes Knochenalter, durch stoffwechselbedingten Schilddrüsenhormonmangel","definition":"Eine seltene, genetisch bedingte kongenitale Hypothyreose-Störung, die durch eine leichte globale Entwicklungsverzögerung in der Kindheit, Kleinwuchs, ein verzögertes Knochenalter und abnorme Schilddrüsen- und Selenspiegel im Serum (hohe Gesamt- und freie T4-Konzentrationen, niedriges T3, hohes reverses T3, normales bis hohes TSH, vermindertes Selen) gekennzeichnet ist. Es wurde auch über Intelligenzminderung, primäre Unfruchtbarkeit, Hypotonie, Muskelschwäche und Hörstörungen berichtet."},"es":{"name":"Talla baja-retraso en la edad ósea por deficiencia en el metabolismo de hormonas tiroideas","definition":"La talla baja-retraso en la edad ósea por deficiencia del metabolismo de las hormonas tiroideas es un trastorno congénito de hipotiroidismo, genético y poco frecuente, que se caracteriza por un leve retraso generalizado del desarrollo en la infancia, baja estatura, edad ósea retrasada, anomalías tiroideas y niveles de selenio en suero anómalos (concentraciones elevadas de T4 total y libre, bajas de T3, elevados de T3 reversa, TSH normal o elevada, concentraciones bajas de selenio). También se ha descrito discapacidad intelectual, infertilidad primaria, hipotonía, debilidad muscular y problemas auditivos."},"it":{"name":"Bassa statura - età ossea ritardata da deficit nel metabolismo degli ormoni tiroidei","definition":"La sindrome da bassa statura e ritardo dell'età ossea secondaria al deficit del metabolismo degli ormoni tiroidei è una malattia genetica rara congenita da ipotiroidismo; è caratterizzata da lieve ritardo dello sviluppo globale nell'infanzia, bassa statura, ritardo dell'età ossea e anomalie dei livelli tiroidei e del selenio sierico (concentrazioni elevate di T4 totale e libera, T3 inversa bassa, TSH normale o alta, selenio basso). Sono stati descritti casi di disabilità intellettiva, infertilità primaria, ipotonia, debolezza muscolare, infertilità primaria, ipotonia, debolezza muscolare e sordità."},"nl":{"name":"Kleine gestalte - vertraagde botleeftijd door deficiëntie in schildklierhormoonmetabolisme","definition":"Kleine gestalte - uitgestelde botleeftijd door schildklierhormoonmetabolismedeficiëntie is een zeldzame, genetische congenitale hypothyreoïdie die gekarakteriseerd wordt door milde algemene ontwikkelingsachterstand in de kindertijd, kleine gestalte, vertraagde botmaturatie, en abnormale gehaltes van thyroïdhormonen en seleen in het serum (hoge totale en vrije concentraties van T4, lage T3, hoge reverse T3, normale tot hoge TSH, verlaagd seleen). Intellectuele achterstand, primaire infertiliteit, hypotonie, spierzwakte, en gehoorstoornis werden ook reeds gerapporteerd."},"pt":{"name":"Baixa estatura-atraso da idade óssea por deficiência no metabolismo da hormona da tiroide"},"pl":{"name":"Niski wzrost-opóźniony wiek kostny z powodu niedoboru metabolizmu hormonów tarczycy"},"cs":{"name":"Malý vzrůst a opožděný kostní věk, způsobené deficitem metabolismu thyreoidálních hormonů"},"uk":{"name":"Низькорослість з затримкою кісткового віку внаслідок дефіциту метаболізму гормонів щитоподібної залози","definition":"Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported."},"zh":{"name":"甲状腺激素代谢缺乏所致身材矮小和骨龄延迟","definition":"甲状腺激素代谢障碍所致身材矮小-骨龄延迟是一种罕见的先天性遗传性甲状腺功能减退症，其主要临床表现为儿童期轻度发育迟缓、身材矮小、骨龄延迟、甲状腺功能和血清硒水平异常（血清总甲状腺素T4升高、游离T4升高，T3降低，反T3升高，TSH正常或升高，硒含量降低）。部分患者还会出现智力障碍、原发性不孕症、肌张力低下、肌无力和听力障碍。"},"tr":{"name":"Tiroid hormonu metabolizması eksikliğine bağlı kısa boy-gecikmiş kemik yaşı"}},"xrefs":[{"source":"OMIM","code":"609698","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619855","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620198","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C4706661","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":596426,"name":"Syndrome of reduced sensitivity to thyroid hormone","classifications":[156,193]}],"children":[],"genes":[{"symbol":"SECISBP2","name":"SECIS binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16228000[PMID]_19602558[PMID]","hgnc":"30972","ensembl":"ENSG00000187742","omim":"607693","loci":["9q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-01","source":"29882503[PMID]_16228000[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032210","label":"Decreased circulating free T3","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031506","label":"Increased circulating thyroxine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040214","label":"Abnormal circulating insulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031903","label":"Abnormal circulating selenium concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}