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Isolated growth hormone deficiency, type 4(IGHD4; IGHD1B, FORMERLY)

MedGen UID:
1648300
Concept ID:
C4722273
Disease or Syndrome
Synonyms: DWARFISM OF SINDH; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
 
Gene (location): GHRHR (7p14.3)
 
Monarch Initiative: MONDO:0032567
OMIM®: 618157

Definition

Isolated growth hormone deficiency type IV (IGHD4) is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. [from OMIM]

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.
Anterior pituitary hypoplasia
MedGen UID:
347950
Concept ID:
C1859775
Congenital Abnormality
Underdevelopment of the anterior pituitary gland.
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.
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.
Impaired growth-hormone response to insulin stimulation test
MedGen UID:
1374054
Concept ID:
C4476958
Finding
Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).
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.

Professional guidelines

PubMed

Yuen KCJ, Biller BMK, Radovick S, Carmichael JD, Jasim S, Pantalone KM, Hoffman AR
Endocr Pract 2019 Nov;25(11):1191-1232. doi: 10.4158/GL-2019-0405. PMID: 31760824
Kamel A, Norgren S, Lindgren AC, Luthman H, Arner P, Marcus C
Eur J Endocrinol 1998 May;138(5):510-6. doi: 10.1530/eje.0.1380510. PMID: 9625361
Zachmann M, Fernandez F, Tassinari D, Thakker R, Prader A
Eur J Pediatr 1980 May;133(3):277-82. doi: 10.1007/BF00496089. PMID: 7389741

Recent clinical studies

Etiology

Hwang J, Jo SW, Kwon EB, Lee SA, Chang SK
Neuroradiology 2021 Jul;63(7):1121-1133. Epub 2021 Feb 20 doi: 10.1007/s00234-021-02665-3. PMID: 33611620
Yuen KCJ, Biller BMK, Radovick S, Carmichael JD, Jasim S, Pantalone KM, Hoffman AR
Endocr Pract 2019 Nov;25(11):1191-1232. doi: 10.4158/GL-2019-0405. PMID: 31760824
Ullah F, Ghaffar T, Afridi AK, Ali A, Aamir Au
J Ayub Med Coll Abbottabad 2016 Jan-Mar;28(1):135-40. PMID: 27323579
Desai MP, Mithbawkar SM, Upadhye PS, Shalia KK
Indian J Pediatr 2012 Jul;79(7):875-83. Epub 2011 Oct 21 doi: 10.1007/s12098-011-0588-5. PMID: 22016154
Hernández LM, Lee PD, Camacho-Hübner C
Pituitary 2007;10(4):351-7. doi: 10.1007/s11102-007-0073-3. PMID: 17965963

Diagnosis

Yackobovitch-Gavan M, Lazar L, Diamant R, Phillip M, Oron T
Horm Res Paediatr 2020;93(7-8):470-476. Epub 2021 Feb 10 doi: 10.1159/000513393. PMID: 33567442
Yuen KCJ, Biller BMK, Radovick S, Carmichael JD, Jasim S, Pantalone KM, Hoffman AR
Endocr Pract 2019 Nov;25(11):1191-1232. doi: 10.4158/GL-2019-0405. PMID: 31760824
Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CA, Kant SG
Eur J Endocrinol 2016 Apr;174(4):R145-73. Epub 2015 Nov 17 doi: 10.1530/EJE-15-0937. PMID: 26578640
Cheng SY, Leonard JL, Davis PJ
Endocr Rev 2010 Apr;31(2):139-70. Epub 2010 Jan 5 doi: 10.1210/er.2009-0007. PMID: 20051527Free PMC Article
Hernández LM, Lee PD, Camacho-Hübner C
Pituitary 2007;10(4):351-7. doi: 10.1007/s11102-007-0073-3. PMID: 17965963

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
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
Yada T, Dezaki K, Sone H, Koizumi M, Damdindorj B, Nakata M, Kakei M
Curr Diabetes Rev 2008 Feb;4(1):18-23. doi: 10.2174/157339908783502352. PMID: 18220691
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
Zachmann M, Fernandez F, Tassinari D, Thakker R, Prader A
Eur J Pediatr 1980 May;133(3):277-82. doi: 10.1007/BF00496089. PMID: 7389741

Prognosis

Ghosh S, Chakraborty PP, Bankura B, Maiti A, Biswas R, Das M
J Clin Res Pediatr Endocrinol 2021 Nov 25;13(4):456-460. Epub 2020 Sep 17 doi: 10.4274/jcrpe.galenos.2020.2020.0005. PMID: 32936763Free PMC Article
Li Y, He X, Fan L, Zhang X, Xu Y, Xu X
Clin Transl Oncol 2021 Apr;23(4):846-855. Epub 2020 Aug 28 doi: 10.1007/s12094-020-02478-5. PMID: 32857339
Yackobovitch-Gavan M, Lazar L, Diamant R, Phillip M, Oron T
Horm Res Paediatr 2020;93(7-8):470-476. Epub 2021 Feb 10 doi: 10.1159/000513393. PMID: 33567442
Mullis PE, Robinson IC, Salemi S, Eblé A, Besson A, Vuissoz JM, Deladoey J, Simon D, Czernichow P, Binder G
J Clin Endocrinol Metab 2005 Apr;90(4):2089-96. Epub 2005 Jan 25 doi: 10.1210/jc.2004-1280. PMID: 15671105
Trygstad O
Acta Endocrinol (Copenh) 1977 Jan;84(1):11-22. doi: 10.1530/acta.0.0840011. PMID: 576178

Clinical prediction guides

Yang X, Yuan M, Li Z, Ying Y, Hou L, Luo X
BMC Med Genomics 2021 Sep 2;14(1):210. doi: 10.1186/s12920-021-01057-z. PMID: 34470639Free PMC Article
Yackobovitch-Gavan M, Lazar L, Diamant R, Phillip M, Oron T
Horm Res Paediatr 2020;93(7-8):470-476. Epub 2021 Feb 10 doi: 10.1159/000513393. PMID: 33567442
Yuen KCJ, Biller BMK, Radovick S, Carmichael JD, Jasim S, Pantalone KM, Hoffman AR
Endocr Pract 2019 Nov;25(11):1191-1232. doi: 10.4158/GL-2019-0405. PMID: 31760824
Aguiar-Oliveira MH, Souza AHO, Oliveira CRP, Campos VC, Oliveira-Neto LA, Salvatori R
Eur J Endocrinol 2017 Aug;177(2):R85-R97. Epub 2017 Apr 20 doi: 10.1530/EJE-16-1047. PMID: 28428227
Behringer RR
Curr Top Dev Biol 1994;29:171-87. doi: 10.1016/s0070-2153(08)60550-5. PMID: 7828438

Recent systematic reviews

Candela E, La Corte E, Zucchini S, Lefosse M, Toni F, Zucchelli M
Horm Res Paediatr 2023;96(4):349-355. Epub 2022 Aug 24 doi: 10.1159/000526617. PMID: 36001954
Hwang J, Jo SW, Kwon EB, Lee SA, Chang SK
Neuroradiology 2021 Jul;63(7):1121-1133. Epub 2021 Feb 20 doi: 10.1007/s00234-021-02665-3. PMID: 33611620

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