X-linked central congenital hypothyroidism with late-onset testicular enlargement

Definition

X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.

Disease data

Classification

Disease

Synonyms

IGSF1 deficiency syndrome

Ośrodkowa wrodzona niedoczynność tarczycy sprzężona z chromosomem X z makroorchidyzmem o późnym początku

Zespół niedoboru IGSF1

X-linked central congenital hypothyroidism with late-onset macroorchidism

ORPHA code

329235

OMIM code

300888

ICD10 code

E03.1

ICD11 code

*Soruce

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X-linked central congenital hypothyroidism with late-onset testicular enlargement

Description of the disease *

Extended description of the disease