Hypothyroidism, Congenital, Nongoitrous, 2 (CHNG2)

先天性非甲状腺肿的甲状腺功能减退2型(来自ICD-11)

别称:

Thyroid Dysgenesis

Thyroid Hypoplasia

Thyroid Hemiagenesis

Chng2

Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia

Congenital Nongoitrous Hypothyroidism 2

Athyreotic Hypothyroidism

Thyrotropin Resistance

Thyroid Agenesis

Rtsh

Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia, Type 2

Congenital Hypothyroidism Due to Thyroid Dysgenesis or Hypoplasia

Hypothyroidism, Congenital, Due to Thyroid Dysgenesis

Congenital Hypothyroidism Due to Thyroid Dysgenesis

Hypothyroidism, Congenital, Non-Goitrous, 2

Hypothyroidism, Congenital, Nongoitrous, 1

Hypothyroidism, Congenital, Nongoitrous, 3

Thyroid-Stimulating Hormone Resistance

Thyroid Hormone Resistance Syndrome

Hypothyroidism, Athyreotic

Resistance to Thyrotropin

Thyroid, Ectopic

Thyroid Ectopic

Ectopic Thyroid

Thyrotropin

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

原发性甲状腺功能减退症，无甲状旁腺功能减退症，2型，又称甲状腺发育不全，与巴莫特-拉扎鲁斯综合症和无甲状腺症有关。与原发性甲状腺功能减退症，无甲状旁腺功能减退症，2型相关的基因是PAX8（配对盒8），其相关通路/超级通路包括甲状腺素（甲状腺激素）的产生。在该疾病的背景下，已提到的药物有地塞米松和地塞米松醋酸酯。相关组织包括甲状腺和垂体，相关表型为便秘和甲状腺功能减退症。

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