Pituitary gigantism

A rare endocrine disease characterized by unusually tall stature (with rapid growth velocity), occurring before closure of the epiphyseal growth plates, due to excessive growth hormone (GH) caused by a GH-secreting pituitary tumor or from pituitary hyperplasia. Additional associated features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis and menstrual irregularity, as well as variable manifestations characteristic of acromegaly, such as prognathism, coarse facial features and large hands/feet in adolescents.



Input patient's signs and symptoms


Narrow down the case reports



Total: 22 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(59.0%)
23565401
(3603049)
Pituitary gigantism: a case report.
Bhattacharjee R, Roy A, Goswami S, Selvan C, Chakraborty PP, Ghosh S, Biswas D, Dasgupta R, Mukhopadhyay S, Chowdhury S.
Indian J Endocrinol Metab. 2012;16(Suppl 2):S285-7.
Large hands Frontal bossing
IGF1 PTH
2
(40.2%)
25192779
Skull deformations in craniosynostosis and endocrine disorders: morphological and tomographic analysis of the skull from the crypt of the Silesian Piasts in Brzeg (16th-17th century), Poland.
Kozlowski T, Cybulska M, Blaszczyk B, Krajewska M, Jesman C.
Homo. 2014;65(5):400-22.
Brachycephaly Narrow face
Acromegaly Adenoma Adult Arnold Chiari Malformation Craniosynostosis History, 16th Century History, 17th Century Homo sapiens Hydrocephalus Male Pituitary Neoplasms X-Ray Computed Tomography
3
(23.3%)
25776010
A probable case of gigantism/acromegaly in skeletal remains from the Jewish necropolis of "Ronda Sur" (Lucena, Cordoba, Spain; VIII-XII centuries CE).
Viciano J, De Luca S, Lopez-Lazaro S, Botella D, Dieguez-Ramirez JP.
Anthropol Anz. 2015;72(1):67-87.
Thickened ribs
Acromegaly Adult Anthropology, Physical Gigantism History, Medieval Homo sapiens Judaism Spain Young Adult
4
(4.0%)
29328563
Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism.
Dragovic T, uran Z, Jelic S, Marinkovic D, Kikovic S, Kuzmic-Jankovic S, Hajdukovic Z.
Vojnosanit Pregl. 2016;73(10):961-6.
Hypogonadism
GH1
Adenoma Adolescent Development Amenorrhea Biological Markers Body Height Delayed Puberty Females Gigantism Growth Hormone-Secreting Pituitary Adenoma Homo sapiens Human Growth Hormone Insulin-Like Growth Factor I Magnetic Resonance Imaging Mosaicism Turner Syndrome
4
(4.0%)
26671997
GHRH excess and blockade in X-LAG syndrome.
Daly AF, Lysy PA, Desfilles C, Rostomyan L, Mohamed A, Caberg JH, Raverot V, Castermans E, Marbaix E, Maiter D, Brunelle C, Trivellin G, Stratakis CA, Bours V, Raftopoulos C, Beauloye V, Barlier A, Beckers A.
Endocr Relat Cancer. 2016;23(3):161-70.
Overgrowth
GHRH GHRHR GHSR GPR101
Antineoplastic Agents, Hormonal Child, Preschool Females Genetic Diseases, X-Linked Gigantism Growth Hormone Homo sapiens Pituitary Neoplasms Somatotropin-Releasing Hormone Syndrome Tumor Cells, Cultured
4
(4.0%)
23729615
Pituitary gigantism presenting with depressive mood disorder and diabetic ketoacidosis in an Asian adolescent.
Kuo SF, Chuang WY, Ng S, Chen CH, Chang CN, Chou CH, Weng WC, Yeh CH, Lin JD.
J Pediatr Endocrinol Metab. 2013;26(9-10):945-8.
Diabetes mellitus
Adenoma Adolescent Development Antineoplastic Agents, Hormonal Combined Modality Therapy Diabetic Ketoacidosis Differential Diagnosis Gigantism Growth Hormone-Secreting Pituitary Adenoma Homo sapiens Hypoglycemic Agents Male Radiosurgery Taiwan
4
(4.0%)
23444479
Spontaneous resolution of pituitary apoplexy in a giant boy under 10 years old.
Chentli F, Bey A, Belhimer F, Azzoug S.
J Pediatr Endocrinol Metab. 2012;25(11-12):1177-9.
Diplopia
GH1
Adenoma, Acidophil Child Gigantism Homo sapiens Magnetic Resonance Imaging Male Neoplasm Regression, Spontaneous Pituitary Apoplexy Pituitary Gland Pituitary Neoplasms
4
(4.0%)
20190543
Eight-year follow-up of a child with a GH/prolactin-secreting adenoma: efficacy of pegvisomant therapy.
Bergamaschi S, Ronchi CL, Giavoli C, Ferrante E, Verrua E, Ferrari DI, Lania A, Rusconi R, Spada A, Beck-Peccoz P.
Horm Res Paediatr. 2010;73(1):74-9.
Tall stature
GH1 IGF1 PRL
Adenoma Child, Preschool Females Follow-Up Studies Gigantism Growth Hormone-Secreting Pituitary Adenoma Homo sapiens Hormone Antagonists Human Growth Hormone Pituitary Neoplasms Prolactinoma
4
(4.0%)
18626098
Excessive growth.
Narayanaswamy V, Rettig KR, Bhowmick SK.
Clin Pediatr (Phila). 2008;47(7):705-8.
Tall stature
Child, Preschool Females Gigantism Growth Hormone Growth Hormone-Secreting Pituitary Adenoma Homo sapiens Insulin-Like Growth Factor Binding Protein 3 Insulin-Like Growth Factor I Magnetic Resonance Imaging
4
(4.0%)
18445999
Case study of a 15-year-old boy with McCune-Albright syndrome combined with pituitary gigantism: effect of octreotide-long acting release (LAR) and cabergoline therapy.
Tajima T, Tsubaki J, Ishizu K, Jo W, Ishi N, Fujieda K.
Endocr J. 2008;55(3):595-9.
Nausea
GH1 GNAS IGF1
Antineoplastic Agents Delayed-Action Preparations Ergolines Gigantism Homo sapiens Male
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000098 Tall stature Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000845 Growth hormone excess Very frequent (99-80%)
HP:0000975 Hyperhidrosis Very frequent (99-80%)
HP:0001176 Large hands Very frequent (99-80%)
HP:0001639 Hypertrophic cardiomyopathy Very frequent (99-80%)
HP:0001712 Left ventricular hypertrophy Very frequent (99-80%)
HP:0001833 Long foot Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0005616 Accelerated skeletal maturation Very frequent (99-80%)
HP:0005978 Type II diabetes mellitus Very frequent (99-80%)
HP:0011407 Proportionate tall stature Very frequent (99-80%)
HP:0011760 Pituitary growth hormone cell adenoma Very frequent (99-80%)
HP:0012411 Premature pubarche Very frequent (99-80%)
HP:0030269 Increased serum insulin-like growth factor 1 Very frequent (99-80%)
HP:0000141 Amenorrhea Frequent (79-30%)
HP:0000870 Prolactin excess Frequent (79-30%)
HP:0006767 Pituitary prolactin cell adenoma Frequent (79-30%)
HP:0100829 Galactorrhea Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 9

HPO ID Term # of case reports
HP:0001953 Diabetic ketoacidosis 2
HP:0000252 Microcephaly 1
HP:0000819 Diabetes mellitus 1
HP:0001658 Myocardial infarction 1
HP:0002315 Headache 1
HP:0009830 Peripheral neuropathy 1
HP:0012199 Cluster headache 1
HP:0030799 Scaphocephaly 1
HP:0100829 Galactorrhea 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID