U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

X-linked central congenital hypothyroidism with late-onset testicular enlargement(CHTE)

MedGen UID:
763877
•Concept ID:
C3550963
•
Disease or Syndrome
Synonyms: Hypothyroidism, central, and testicular enlargement; HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Gene (location): IGSF1 (Xq26.1)
 
Monarch Initiative: MONDO:0010475
OMIM®: 300888
Orphanet: ORPHA329235

Definition

Central hypothyroidism and testicular enlargement (CHTE) is characterized by central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, and occasional transient partial GH deficiency. Some carrier females also exhibit central hypothyroidism and mild prolactin deficiency. Inter- and intrafamilial variability has been observed (summary by Joustra et al., 2016). [from OMIM]

Clinical features

From HPO
Overweight
MedGen UID:
105424
•Concept ID:
C0497406
•
Finding
Increased body weight with a body mass index of 25-29.9 kg per square meter.
See: Feature record | Search on this feature
Isolated prolactin deficiency
MedGen UID:
75758
•Concept ID:
C0271586
•
Finding
A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.
See: Feature record | Search on this feature
Hypothyroidism
MedGen UID:
6991
•Concept ID:
C0020676
•
Disease or Syndrome
Deficiency of thyroid hormone.
See: Feature record | Search on this feature
Inappropriately normal thyroid-stimulating hormone level
MedGen UID:
1691608
•Concept ID:
C5232538
•
Finding
A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.
See: Feature record | Search on this feature
Reduced TSH response to thyrotrophin-releasing hormone stimulation test
MedGen UID:
1759429
•Concept ID:
C5421596
•
Finding
A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked central congenital hypothyroidism with late-onset testicular enlargement
Follow this link to review classifications for X-linked central congenital hypothyroidism with late-onset testicular enlargement in Orphanet.

Supplemental Content