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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
X-linked central congenital hypothyroidism with late-onset testicular enlargement?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.