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

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

Synonyms: IGSF1 deficiency syndrome | X-linked central congenital hypothyroidism with late-onset macroorchidism

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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

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