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

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Name:
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Description:
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.
ORPHAcode:
329235
Synonyms:
IGSF1 deficiency syndrome
X-linked central congenital hypothyroidism with late-onset macroorchidism
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14