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Hypothalamic hypothyroidism

MedGen UID:
113137
Concept ID:
C0220998
Disease or Syndrome
Synonyms: Isolated thyrotropin-releasing hormone deficiency; Thyrotropin-releasing hormone deficiency; TRH DEFICIENCY
SNOMED CT: Tertiary hypothyroidism (37429009); Hypothalamic hypothyroidism (37429009); Hypothyroidism due to TRH deficiency (37429009)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Gene (location): TRH (3q22.1)
 
HPO: HP:0008237
Monarch Initiative: MONDO:0010140
OMIM®: 275120
Orphanet: ORPHA238670

Definition

A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. [from HPO]

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).
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Hypothalamic hypothyroidism
MedGen UID:
113137
Concept ID:
C0220998
Disease or Syndrome
A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.

Term Hierarchy

Conditions with this feature

Hypothalamic hypothyroidism
MedGen UID:
113137
Concept ID:
C0220998
Disease or Syndrome
A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.

Professional guidelines

PubMed

Oto Y, Murakami N, Matsubara K, Saima S, Ogata H, Ihara H, Nagai T, Matsubara T
Am J Med Genet A 2020 Apr;182(4):659-663. Epub 2020 Feb 3 doi: 10.1002/ajmg.a.61499. PMID: 32011826
Oberfield SE, Allen JC, Pollack J, New MI, Levine LS
J Pediatr 1986 Feb;108(2):219-23. doi: 10.1016/s0022-3476(86)80986-6. PMID: 3944706
Dussault JH, Parlow A, Letarte J, Guyda H, Laberge C
J Pediatr 1976 Oct;89(4):550-2. doi: 10.1016/s0022-3476(76)80384-8. PMID: 956996

Recent clinical studies

Etiology

Oto Y, Murakami N, Matsubara K, Saima S, Ogata H, Ihara H, Nagai T, Matsubara T
Am J Med Genet A 2020 Apr;182(4):659-663. Epub 2020 Feb 3 doi: 10.1002/ajmg.a.61499. PMID: 32011826
Hancock SL, McDougall IR, Constine LS
Int J Radiat Oncol Biol Phys 1995 Mar 30;31(5):1165-70. doi: 10.1016/0360-3016(95)00019-U. PMID: 7713780
Chioléro RL, Lemarchand-Béraud T, Schutz Y, de Tribolet N, Bayer-Berger M, Freeman J
Acta Endocrinol (Copenh) 1988 Jan;117(1):80-6. doi: 10.1530/acta.0.1170080. PMID: 3132788
Gharib H, Abboud CF
Am J Med 1987 Jul;83(1):171-4. doi: 10.1016/0002-9343(87)90515-8. PMID: 3111258
Oberfield SE, Allen JC, Pollack J, New MI, Levine LS
J Pediatr 1986 Feb;108(2):219-23. doi: 10.1016/s0022-3476(86)80986-6. PMID: 3944706

Diagnosis

Tamai H, Mori K, Matsubayashi S, Kiyohara K, Nakagawa T, Okimura MC, Walter RM Jr, Kumagai LF, Nagataki S
Psychother Psychosom 1986;46(3):127-31. doi: 10.1159/000287973. PMID: 3114819
Jawadi MH, Hanson TJ, Schemmel JE, Beck P, Katz FH
Horm Res 1980;12(1):1-9. doi: 10.1159/000179099. PMID: 6245023
Shenkman L, Mitsuma T, Suphavai A, Hollander CS
JAMA 1972 Oct;222(4):480-1. PMID: 4627559
Weeke J, Jensen SE
Lancet 1972 Feb 12;1(7746):385. doi: 10.1016/s0140-6736(72)92886-3. PMID: 4109777
Pittman JA Jr, Haigler ED Jr, Hershman JM, Pittman CS
N Engl J Med 1971 Oct 7;285(15):844-5. doi: 10.1056/NEJM197110072851508. PMID: 4998943

Therapy

Oto Y, Murakami N, Matsubara K, Saima S, Ogata H, Ihara H, Nagai T, Matsubara T
Am J Med Genet A 2020 Apr;182(4):659-663. Epub 2020 Feb 3 doi: 10.1002/ajmg.a.61499. PMID: 32011826
De Groot LJ
Crit Care Clin 2006 Jan;22(1):57-86, vi. doi: 10.1016/j.ccc.2005.10.001. PMID: 16399020
Hancock SL, McDougall IR, Constine LS
Int J Radiat Oncol Biol Phys 1995 Mar 30;31(5):1165-70. doi: 10.1016/0360-3016(95)00019-U. PMID: 7713780
Shenkman L, Mitsuma T, Suphavai A, Hollander CS
JAMA 1972 Oct;222(4):480-1. PMID: 4627559
Pittman JA Jr, Haigler ED Jr, Hershman JM, Pittman CS
N Engl J Med 1971 Oct 7;285(15):844-5. doi: 10.1056/NEJM197110072851508. PMID: 4998943

Prognosis

Oto Y, Murakami N, Matsubara K, Saima S, Ogata H, Ihara H, Nagai T, Matsubara T
Am J Med Genet A 2020 Apr;182(4):659-663. Epub 2020 Feb 3 doi: 10.1002/ajmg.a.61499. PMID: 32011826
Arlt W, Hove U, Müller B, Reincke M, Berweiler U, Schwab F, Allolio B
Neurology 1997 Aug;49(2):498-506. doi: 10.1212/wnl.49.2.498. PMID: 9270585
Gharib H, Abboud CF
Am J Med 1987 Jul;83(1):171-4. doi: 10.1016/0002-9343(87)90515-8. PMID: 3111258
Rippere V
Med Hypotheses 1986 Nov;21(3):241-8. doi: 10.1016/0306-9877(86)90016-2. PMID: 3642195
Huseman CA, Torkelson RD
Am J Dis Child 1984 Oct;138(10):927-31. doi: 10.1001/archpedi.1984.02140480029010. PMID: 6475854

Clinical prediction guides

Hancock SL, McDougall IR, Constine LS
Int J Radiat Oncol Biol Phys 1995 Mar 30;31(5):1165-70. doi: 10.1016/0360-3016(95)00019-U. PMID: 7713780
Chioléro RL, Lemarchand-Béraud T, Schutz Y, de Tribolet N, Bayer-Berger M, Freeman J
Acta Endocrinol (Copenh) 1988 Jan;117(1):80-6. doi: 10.1530/acta.0.1170080. PMID: 3132788
Rippere V
Med Hypotheses 1986 Nov;21(3):241-8. doi: 10.1016/0306-9877(86)90016-2. PMID: 3642195
Fleischer AS, Rudman DR, Payne NS, Tindall GT
J Neurosurg 1978 Nov;49(5):650-7. doi: 10.3171/jns.1978.49.5.0650. PMID: 213540
Duick DS, Stein RB, Warren DW, Nicoloff JT
J Clin Endocrinol Metab 1975 Aug;41(2):229-34. doi: 10.1210/jcem-41-2-229. PMID: 1159040

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