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Hypothyroidism, congenital, nongoitrous, 9(CHNG9)

MedGen UID:: 1684807
•Concept ID:: C5231396
•: Disease or Syndrome

Synonyms:	CHNG9; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9

Gene (location): Gene(s) directly associated with this condition or phenotype.	IRS4 (Xq22.3)

Monarch Initiative:	MONDO:0026732
OMIM®:	301035

Definition

Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH) (Heinen et al., 2018). [from OMIM]

Clinical features

From HPO

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Thyroid hypoplasia

MedGen UID:: 57720
•Concept ID:: C0151516
•: Disease or Syndrome

Developmental hypoplasia of the thyroid gland.

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Central hypothyroidism

MedGen UID:: 488836
•Concept ID:: C0271801
•: Disease or Syndrome

A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.

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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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Decreased circulating free T4 concentration

MedGen UID:: 1743550
•Concept ID:: C5421592
•: Finding

A reduced concentration of free thyroxine (fT4) in the blood circulation.

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Abnormality of the endocrine system
Growth abnormality
- Short stature

Recent clinical studies

Etiology

Thyroid function, sensitivity to thyroid hormones, and metabolic syndrome in euthyroid children and adolescents with Down syndrome.

Calcaterra V, Gazzarri A, De Silvestri A, Madia C, Baldassarre P, Rossi V, Garella V, Zuccotti G
J Endocrinol Invest 2023 Nov;46(11):2319-2325. Epub 2023 Apr 11 doi: 10.1007/s40618-023-02086-4. PMID: 37040064

Impaired Sensitivity to Thyroid Hormones Is Associated With Elevated Homocysteine Levels in the Euthyroid Population.

Ding X, Wang Y, Liu J, Wang G
J Clin Endocrinol Metab 2022 Aug 18;107(9):e3731-e3737. doi: 10.1210/clinem/dgac371. PMID: 35708733

Seasonal variations in TSH serum levels in athyreotic patients under L-thyroxine replacement monotherapy.

Gullo D, Latina A, Frasca F, Squatrito S, Belfiore A, Vigneri R
Clin Endocrinol (Oxf) 2017 Aug;87(2):207-215. Epub 2017 May 16 doi: 10.1111/cen.13351. PMID: 28398655

Iron deficiency in goitrous schoolchildren of Semirom, Iran.

Siavash Dastjerdi M, Hashemipour M, Rezvanian H, Kazemi F, Najafian A, Mohammady M, Aminorroaya A, Amini M, Kachuei A, Hassan Moaddab M
Horm Res 2006;66(1):45-50. Epub 2006 May 19 doi: 10.1159/000093473. PMID: 16710096

Thyroid function in neonates from goitrous and nongoitrous iodine-sufficient areas.

Gaitan E, Cooksey RC, Meydrech EF, Legan J, Gaitan GS, Astudillo J, Guzman R, Guzman N, Medina P
J Clin Endocrinol Metab 1989 Aug;69(2):359-63. doi: 10.1210/jcem-69-2-359. PMID: 2753978

See all (5)

Diagnosis

Thyroid function, sensitivity to thyroid hormones, and metabolic syndrome in euthyroid children and adolescents with Down syndrome.

Impaired Sensitivity to Thyroid Hormones Is Associated With Elevated Homocysteine Levels in the Euthyroid Population.

Ding X, Wang Y, Liu J, Wang G
J Clin Endocrinol Metab 2022 Aug 18;107(9):e3731-e3737. doi: 10.1210/clinem/dgac371. PMID: 35708733

Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism.

McGrath N, Hawkes CP, Ryan S, Mayne P, Murphy N
Horm Res Paediatr 2021;94(1-2):36-43. Epub 2021 May 27 doi: 10.1159/000514989. PMID: 34044405

See all (3)

Therapy

Seasonal variations in TSH serum levels in athyreotic patients under L-thyroxine replacement monotherapy.

Gullo D, Latina A, Frasca F, Squatrito S, Belfiore A, Vigneri R
Clin Endocrinol (Oxf) 2017 Aug;87(2):207-215. Epub 2017 May 16 doi: 10.1111/cen.13351. PMID: 28398655

Thyroid function in neonates from goitrous and nongoitrous iodine-sufficient areas.

Gaitan E, Cooksey RC, Meydrech EF, Legan J, Gaitan GS, Astudillo J, Guzman R, Guzman N, Medina P
J Clin Endocrinol Metab 1989 Aug;69(2):359-63. doi: 10.1210/jcem-69-2-359. PMID: 2753978

See all (2)

Clinical prediction guides

Seasonal variations in TSH serum levels in athyreotic patients under L-thyroxine replacement monotherapy.

Gullo D, Latina A, Frasca F, Squatrito S, Belfiore A, Vigneri R
Clin Endocrinol (Oxf) 2017 Aug;87(2):207-215. Epub 2017 May 16 doi: 10.1111/cen.13351. PMID: 28398655

Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.

Grasberger H, Vaxillaire M, Pannain S, Beck JC, Mimouni-Bloch A, Vatin V, Vassart G, Froguel P, Refetoff S
Hum Genet 2005 Dec;118(3-4):348-55. Epub 2005 Sep 28 doi: 10.1007/s00439-005-0036-6. PMID: 16189712

See all (2)

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Hypothyroidism, congenital, nongoitrous, 9(CHNG9)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

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Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

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