Hypothyroidism, Central, with Testicular Enlargement (CHTE)

Alias:

X-Linked Central Congenital Hypothyroidism with Late-Onset Testicular Enlargement

Hypothyroidism, Central, and Testicular Enlargement

Igsf1 Deficiency Syndrome

Chte

X-Linked Central Congenital Hypothyroidism with Late-Onset Macroorchidism

Central Hypothyroidism and Testicular Enlargement

Hypothyroidism, Central, Testicular Enlargement

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hypothyroidism, Central, with Testicular Enlargement, also known as x-linked central congenital hypothyroidism with late-onset testicular enlargement, is related to hypothyroidism, congenital, nongoitrous, 4 and hypopituitarism. An important gene associated with Hypothyroidism, Central, with Testicular Enlargement is IGSF1 (Immunoglobulin Superfamily Member 1), and among its related pathways/superpathways is Glucocorticoid receptor regulatory network. Affiliated tissues include thyroid and testis, and related phenotypes are hypothyroidism and inappropriately normal thyroid-stimulating hormone level

Related ID：

MALACARDS：HYP856

OMIM：300888

MESH：D003409