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Autosomal dominant isolated somatotropin deficiency(IGHD2)

MedGen UID:
124405
Concept ID:
C0271567
Disease or Syndrome
Synonyms: Growth hormone deficiency, isolated autosomal dominant; Idiopathic Growth Hormone Deficiency Type II; IGHD II; IGHD2; Isolated growth hormone deficiency type 2; Isolated Growth Hormone Deficiency, Type II; Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
SNOMED CT: Autosomal dominant isolated somatotropin deficiency (237687003); Isolated growth hormone deficiency - autosomal dominant (237687003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): GH1 (17q23.3)
 
Monarch Initiative: MONDO:0008250
OMIM®: 173100
Orphanet: ORPHA231679

Definition

Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012). [from OMIM]

Additional description

From MedlinePlus Genetics
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.

There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern.

Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth.

People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood.

Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone.

Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).  https://medlineplus.gov/genetics/condition/isolated-growth-hormone-deficiency

Clinical features

From HPO
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Pituitary dwarfism
MedGen UID:
8506
Concept ID:
C0013338
Disease or Syndrome
A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.
Anterior pituitary hypoplasia
MedGen UID:
347950
Concept ID:
C1859775
Congenital Abnormality
Underdevelopment of the anterior pituitary gland.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Decreased serum insulin-like growth factor 1
MedGen UID:
892792
Concept ID:
C4072897
Finding
A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Decreased response to growth hormone stimulation test
MedGen UID:
1784655
Concept ID:
C5539399
Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Autosomal dominant isolated somatotropin deficiency in Orphanet.

Professional guidelines

PubMed

Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT
J Clin Endocrinol Metab 2009 Sep;94(9):3191-9. Epub 2009 Jun 30 doi: 10.1210/jc.2008-2783. PMID: 19567534

Recent clinical studies

Etiology

Lido AC, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EP, Nishi MY, Mendonca BB, Arnhold IJ, Jorge AA
Growth Horm IGF Res 2014 Oct;24(5):180-6. Epub 2014 Jul 30 doi: 10.1016/j.ghir.2014.07.001. PMID: 25116472
Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT
J Clin Endocrinol Metab 2009 Sep;94(9):3191-9. Epub 2009 Jun 30 doi: 10.1210/jc.2008-2783. PMID: 19567534
Binder G, Iliev DI, Mullis PE, Ranke MB
Growth Horm IGF Res 2007 Jun;17(3):242-8. Epub 2007 Mar 13 doi: 10.1016/j.ghir.2007.01.014. PMID: 17360215
Chaler EA, Travaglino P, Pagani S, Bozzola E, Marino R, Berensztein E, Maceiras M, Tauber M, Rivarola MA, Belgorosky A, Bozzola M
J Endocrinol Invest 2006 Feb;29(2):109-14. doi: 10.1007/BF03344082. PMID: 16610235
Dündar B, Erçal D, Böber E, Berk T, Büyükgebiz A
J Pediatr Endocrinol Metab 2002 May;15(5):659-62. doi: 10.1515/jpem.2002.15.5.659. PMID: 12014527

Diagnosis

Iancu ME, Albu AI, Albu DN
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1211-1214. Epub 2022 Jul 1 doi: 10.1515/jpem-2022-0054. PMID: 35770839
Hwang IT, Mizuno Y, Amano N, Lee HJ, Shim YS, Nam HK, Rhie YJ, Yang S, Lee KH, Hasegawa T, Kang MJ
Mol Genet Genomic Med 2020 Mar;8(3):e1146. Epub 2020 Jan 20 doi: 10.1002/mgg3.1146. PMID: 31960617Free PMC Article
Kautsar A, Wit JM, Pulungan A
J Clin Res Pediatr Endocrinol 2019 Nov 22;11(4):426-431. Epub 2019 Jan 25 doi: 10.4274/jcrpe.galenos.2019.2018.0305. PMID: 30678423Free PMC Article
Sano S, Iwata H, Matsubara K, Fukami M, Kagami M, Ogata T
Endocr J 2015;62(6):523-9. Epub 2015 Apr 3 doi: 10.1507/endocrj.EJ15-0033. PMID: 25843330
Ruiz-Pacheco R, Chatelain P, Sizonenko PC, Bost M, Garandau P, Sultan C
Hum Genet 1993 Oct 1;92(3):273-81. doi: 10.1007/BF00244472. PMID: 8104861

Therapy

Iancu ME, Albu AI, Albu DN
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1211-1214. Epub 2022 Jul 1 doi: 10.1515/jpem-2022-0054. PMID: 35770839
Miletta MC, Petkovic V, Eblé A, Flück CE, Mullis PE
Endocrinology 2016 Oct;157(10):3972-3982. Epub 2016 Jun 2 doi: 10.1210/en.2015-2038. PMID: 27253996
Miletta MC, Lochmatter D, Pektovic V, Mullis PE
Endocr Dev 2012;23:109-20. Epub 2012 Nov 23 doi: 10.1159/000341766. PMID: 23182825
Binder G, Iliev DI, Mullis PE, Ranke MB
Growth Horm IGF Res 2007 Jun;17(3):242-8. Epub 2007 Mar 13 doi: 10.1016/j.ghir.2007.01.014. PMID: 17360215
Poskitt EM, Rayner PH
Arch Dis Child 1974 Jan;49(1):55-9. doi: 10.1136/adc.49.1.55. PMID: 4361890Free PMC Article

Prognosis

Labello JH, Benedetti AFF, Azevedo BV, de Lima Jorge AA, Cescato VAS, Rosemberg S, Frasseto FP, Arnhold IJP, de Carvalho LRS
Arch Endocrinol Metab 2022 Mar 8;66(1):104-111. Epub 2022 Jan 13 doi: 10.20945/2359-3997000000428. PMID: 35029852Free PMC Article
Hwang IT, Mizuno Y, Amano N, Lee HJ, Shim YS, Nam HK, Rhie YJ, Yang S, Lee KH, Hasegawa T, Kang MJ
Mol Genet Genomic Med 2020 Mar;8(3):e1146. Epub 2020 Jan 20 doi: 10.1002/mgg3.1146. PMID: 31960617Free PMC Article
Lido AC, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EP, Nishi MY, Mendonca BB, Arnhold IJ, Jorge AA
Growth Horm IGF Res 2014 Oct;24(5):180-6. Epub 2014 Jul 30 doi: 10.1016/j.ghir.2014.07.001. PMID: 25116472
Babu D, Mellone S, Fusco I, Petri A, Walker GE, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M
Endocrinology 2014 May;155(5):1786-92. Epub 2014 Mar 17 doi: 10.1210/en.2013-2146. PMID: 24635352
Pérez Jurado LA, Argente J
Horm Res 1994;42(4-5):189-97. doi: 10.1159/000184192. PMID: 7868072

Clinical prediction guides

Hwang IT, Mizuno Y, Amano N, Lee HJ, Shim YS, Nam HK, Rhie YJ, Yang S, Lee KH, Hasegawa T, Kang MJ
Mol Genet Genomic Med 2020 Mar;8(3):e1146. Epub 2020 Jan 20 doi: 10.1002/mgg3.1146. PMID: 31960617Free PMC Article
Lido AC, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EP, Nishi MY, Mendonca BB, Arnhold IJ, Jorge AA
Growth Horm IGF Res 2014 Oct;24(5):180-6. Epub 2014 Jul 30 doi: 10.1016/j.ghir.2014.07.001. PMID: 25116472
Babu D, Mellone S, Fusco I, Petri A, Walker GE, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M
Endocrinology 2014 May;155(5):1786-92. Epub 2014 Mar 17 doi: 10.1210/en.2013-2146. PMID: 24635352
Miletta MC, Lochmatter D, Pektovic V, Mullis PE
Endocr Dev 2012;23:109-20. Epub 2012 Nov 23 doi: 10.1159/000341766. PMID: 23182825
Pérez Jurado LA, Argente J
Horm Res 1994;42(4-5):189-97. doi: 10.1159/000184192. PMID: 7868072

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