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): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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Hypothyroidism

MedGen UID:: 6991
•Concept ID:: C0020676
•: Disease or Syndrome

Deficiency of thyroid hormone.

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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.

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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.

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Abnormality of the endocrine system
Abnormality of the nervous system
- Isolated prolactin deficiency
Growth abnormality
- Overweight

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

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

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

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

Definition

Clinical features

Term Hierarchy

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