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

Disease 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.

ORPHA:329235

  • Synonym(s):
    • IGSF1 deficiency syndrome
    • X-linked central congenital hypothyroidism with late-onset macroorchidism
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E03.1
  • OMIM: 300888
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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