raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:91347

TSH-secreting pituitary adenoma

Synonyms: Thyrotroph adenoma · Pituitary thyrotrophic adenoma · TSH-oma · Thyroid stimulating hormone-secreting pituitary adenoma

Type
Disease
Group
Disorder
Age of onset
Adolescent, Adult, Childhood, Elderly
Status
active

A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enTSH-secreting pituitary adenomaThyrotroph adenoma · Pituitary thyrotrophic adenoma · TSH-oma · Thyroid stimulating hormone-secreting pituitary adenoma
frAdénome thyréotropeAdénome hypophysaire à TSH · Adénome hypophysaire à thyréostimuline · Adénome thyréotrope hypophysaire
deHypophysenadenom, TSH-sezernierendesAdenom, thyreotropes · Hypophysenadenom, thyreotropes · TSHom
esAdenoma hipofisario secretor de TSHAdenoma hipofisario secretor de la hormona estimulante de la tiroides · Adenoma hipofisario tirotrófico · Adenoma tirotrófico · TSH-oma
itAdenoma ipofisario secernente TSHAdenoma ipofisario secernente l'ormone stimolante la tiroide · Adenoma tireotropo · Adenoma tireotropo ipofisario · TSH-oma
nlTSH-secreterend hypofyseadenoomTSHoom · Thyreotroop adenoom · Thyreotroop hypofyseadenoom · Thyreoïdstimulerend hormoon-secreterend hypofyseadenoom
ptAdenoma hipofisário secretor de TSHAdenoma tireotrófico
plGruczolak przysadki wydzielający TSHGruczolak przysadki wydzielający hormon tyreotropowy · Gruczolak przysadki wydzielający tyreotropinę · Gruczolak tyreotropowy · TSH-oma
csAdenom hypofýzy produkující TSHTyreotropní adenom hypofýzy
ukАденома гіпофіза, що секретує ТТГТиреотрофічна аденома гіпофіза · Аденома гіпофіза, що секретує тиреотропний гормон · Аденома щитоподібної залози · ТТГ-ома
zh促甲状腺素分泌型垂体腺瘤促甲状腺素分泌型垂体腺瘤
trTSH salgılayan hipofiz adenomuTSH-oma · Tirotrof adenom · Hipofiz tirotrofik adenom · Tiroid uyarıcı hormon salgılayan hipofiz adenomu

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10D35.2NTBTattributedvalidated
ICD-112F37.YNTBTindexvalidated
MONDO0019611Evalidated
UMLSC0346303Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
CDH23Major susceptibility factor inAssessedHGNC:13733ENSG0000010773660551610q22.1cadherin related 2328413019[PMID]
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 1 000 0000.28 / 100 000SwedenValue and classValidated23295463[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

66 annotations · validated 2016-04-11
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0012503Abnormality of the pituitary gland
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0012505Enlarged pituitary gland
HP:0000853Goiter
HP:0000836Hyperthyroidism
Frequent (79-30%)
HP:0011362Abnormal hair quantity
HP:0000140Abnormality of the menstrual cycle
HP:0011748Adrenocorticotropic hormone deficiency
HP:0011735Adrenocorticotropin deficient adrenal insufficiency
HP:0011734Central adrenal insufficiency
HP:0002920Decreased circulating ACTH level
HP:0030018Decreased female libido
HP:0000868Decreased fertility in females
HP:0012041Decreased fertility in males
HP:0003388Easy fatigability
HP:0100639Erectile dysfunction
HP:0012378Fatigue
HP:0000134Female hypogonadism
HP:0000771Gynecomastia
HP:0002315Headache
HP:0000975Hyperhidrosis
HP:0000135Hypogonadism
HP:0000044Hypogonadotropic hypogonadism
HP:0002615Hypotension
HP:0000802Impotence
HP:0000858Irregular menstruation
HP:0000026Male hypogonadism
HP:0002017Nausea and vomiting
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000980Pallor
HP:0001962Palpitations
HP:0000529Progressive visual loss
HP:0008240Secondary growth hormone deficiency
HP:0011782Thyroid crisis
HP:0001337Tremor
HP:0002013Vomiting
HP:0001824Weight loss
Occasional (29-5%)
HP:0006897Abducens palsy
HP:0030588Abnormal visual field test
HP:0030521Bitemporal hemianopia
HP:0000618Blindness
HP:0001635Congestive heart failure
HP:0006824Cranial nerve paralysis
HP:0000823Delayed puberty
HP:0000651Diplopia
HP:0000845Elevated circulating growth hormone concentration
HP:0008247Euthyroid hyperthyroxinemia
HP:0007011Fourth cranial nerve palsy
HP:0012377Hemianopia
HP:0030517Heteronymous hemianopia
HP:0000822Hypertension
HP:0002900Hypokalemia
HP:0000837Increased circulating gonadotropin level
HP:0000870Increased circulating prolactin concentration
HP:0000789Infertility
HP:0007942Internal ophthalmoplegia
HP:0012246Oculomotor nerve palsy
HP:0001698Pericardial effusion
HP:0008153Periodic hypokalemic paresis
HP:0000508Ptosis
HP:0001250Seizure
HP:0001117Sudden loss of visual acuity
HP:0005115Supraventricular arrhythmia
HP:0004308Ventricular arrhythmia
HP:0002321Vertigo

Run the differential on the 5 obligate / very frequent terms

Annotation source: 8768879[PMID]_24552222[PMID]_6810781[PMID]_1704010[PMID]_19098060[PMID]_25237847[PMID]_26765410[PMID]_6338852[PMID]_9735086[PMID]_10566620[PMID]_1704011[PMID]_12544087[PMID]_15545848[PMID]

7

Sources for this card