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Reduced circulating growth hormone concentration

MedGen UID:
1815075
Concept ID:
C5706169
Finding
Synonyms: Growth hormone deficiency; Somatotropin deficiency
 
HPO: HP:0034323

Definition

Concentration of growth hormone in the blood circulation below normal limits. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced circulating growth hormone concentration

Conditions with this feature

Ateleiotic dwarfism
MedGen UID:
90986
Concept ID:
C0342573
Congenital Abnormality
Isolated growth hormone deficiency type IA is an autosomal recessive disorder characterized by severe growth failure (SDS less than -4.5) by 6 months of age, undetectable growth hormone (GH) concentrations, and a tendency to develop antibodies despite an initial good response to rhGH treatment (summary by Alatzoglou et al., 2014). Genetic Heterogeneity of Isolated Growth Hormone Deficiency See IGHD1B (617281) and IGHD2 (173100), both caused by mutation in the GH1 gene; IGHD3 (307200), caused by mutation in the BTK gene (300300); and IGHD4 (618157), caused by mutation in the GHRHR gene (139191). Isolated growth hormone deficiency-5 (IGHD5) has been reclassified as combined pituitary hormone deficiency-7 (CPHD7; 618160).
Pituitary hormone deficiency, combined, 2
MedGen UID:
209236
Concept ID:
C0878683
Disease or Syndrome
PROP1-related combined pituitary hormone deficiency (CPHD) is associated with deficiencies of: growth hormone (GH); thyroid-stimulating hormone (TSH); the two gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH); prolactin (PrL); and occasionally adrenocorticotropic hormone (ACTH). At birth, in contrast to individuals with congenital CPHD of other etiologies, neonates with PROP1-related CPHD lack perinatal signs of hypopituitarism. Mean birth weights and lengths are usually within the normal range and neonatal hypoglycemia and prolonged neonatal jaundice are not prevalent findings. Most affected individuals are ascertained because of short stature during childhood. Although TSH deficiency can present shortly after birth, TSH deficiency usually occurs with or after the onset of GH deficiency. Hypothyroidism is usually mild. FSH and LH deficiencies are typically identified at the age of onset of puberty. Affected individuals can have absent or delayed and incomplete secondary sexual development with infertility. Untreated males usually have a small penis and small testes. Some females experience menarche but subsequently require hormone replacement therapy. ACTH deficiency is less common and, when present, usually occurs in adolescence or adulthood. Neuroimaging of hypothalamic-pituitary region usually demonstrates a hypoplastic or normal anterior pituitary lobe and a normal posterior pituitary lobe.
RHYNS syndrome
MedGen UID:
356371
Concept ID:
C1865794
Disease or Syndrome
RHYNS syndrome is characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (Di Rocco et al., 1997).
Isolated growth hormone deficiency type IB
MedGen UID:
411242
Concept ID:
C2748571
Disease or Syndrome
IGHD type IB is an autosomal recessive disorder characterized by low but detectable levels of GH, short stature (more than 2 SD below the mean for age and sex), delayed bone age, and a good response to rhGH treatment without antibody formation (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400.
Pituitary hormone deficiency, combined, 1
MedGen UID:
414421
Concept ID:
C2751608
Disease or Syndrome
Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD (Gergics et al., 2021). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). Reviews Voss and Rosenfeld (1992) reviewed the development and differentiation of the 5 pituitary cell types: galactotropes, gonadotropes, corticotropes, thyrotropes, and somatotropes. As indicated by the mutations in PIT1 described later, combined pituitary hormone deficiency can have either autosomal dominant or autosomal recessive inheritance, depending on the part of the PIT1 molecule affected by the mutation. Some mutations have a dominant-negative effect. Genetic Heterogeneity of Combined Pituitary Hormone Deficiency CPHD2 (262600), associated with hypogonadism, is caused by mutation in the PROP1 gene (601538). CPHD3 (221750), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (600577). CPHD4 (262700) is caused by mutation in the LHX4 gene (602146). CPHD5 (see septooptic dysplasia, 182230) is caused by mutation in the HESX1 gene (601802). CPHD6 (613986) is caused by mutation in the OTX2 gene (600037). CPHD7 (618160) is caused by mutation in the RNPC3 gene (618016).
Pituitary hormone deficiency, combined, 6
MedGen UID:
462790
Concept ID:
C3151440
Disease or Syndrome
Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
MedGen UID:
463207
Concept ID:
C3151857
Disease or Syndrome
This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).
Severe dermatitis-multiple allergies-metabolic wasting syndrome
MedGen UID:
816049
Concept ID:
C3809719
Disease or Syndrome
A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects.
Combined oxidative phosphorylation defect type 25
MedGen UID:
1799165
Concept ID:
C5567742
Disease or Syndrome
A rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activity. Characteristics of this disease hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.
Pituitary hormone deficiency, combined or isolated, 8
MedGen UID:
1841011
Concept ID:
C5830375
Disease or Syndrome
Combined pituitary hormone deficiency-8 (CPHD8) is an autosomal dominant disorder characterized by deficiency of one or more of the pituitary hormones. Affected individuals have short stature due to growth hormone (GH; 139250) deficiency with variable deficiencies of other pituitary hormones, including TSH (see 188540), ACTH, and LH/FSH (see 118850). Posterior pituitary deficiency leading to central diabetes insipidus is rare (Bashamboo et al., 2017). Many patients are diagnosed with 'pituitary stalk interruption syndrome' (PSIS), which is characterized by a thin or absent pituitary stalk, absent or ectopic posterior pituitary, and hypoplasia of the anterior pituitary demonstrated on brain imaging, although this classic triad may be incomplete. Brauner et al. (2020) noted the complex phenotypic and genetic heterogeneity of PSIS, and concluded that it is a feature of genetic disorders or syndromes rather than a specific clinical entity. For a discussion of genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).

Professional guidelines

PubMed

Gajewska J, Szamotulska K, Klemarczyk W, Chełchowska M, Strucińska M, Ambroszkiewicz J
Nutrients 2023 Mar 1;15(5) doi: 10.3390/nu15051240. PMID: 36904239Free PMC Article
Nissel R, Fischer DC, Puhlmann A, Holdt-Lehmann B, Mitzner A, Petzsch M, Körber T, Tiess M, Schmidt R, Haffner D
Microvasc Res 2009 Sep;78(2):246-52. Epub 2009 Jun 3 doi: 10.1016/j.mvr.2009.05.006. PMID: 19500600
Hjerrild BE, Mortensen KH, Gravholt CH
Br Med Bull 2008;86:77-93. Epub 2008 Apr 9 doi: 10.1093/bmb/ldn015. PMID: 18400842

Recent clinical studies

Etiology

van Winden LJ, van Rossum HH
Adv Clin Chem 2022;108:73-104. Epub 2021 Aug 23 doi: 10.1016/bs.acc.2021.07.007. PMID: 35659062
Vervloet M
Nat Rev Nephrol 2019 Feb;15(2):109-120. doi: 10.1038/s41581-018-0087-2. PMID: 30514976
Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen CY, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO; AXLES 1 Investigators
J Bone Miner Res 2018 Aug;33(8):1383-1393. Epub 2018 Jun 26 doi: 10.1002/jbmr.3475. PMID: 29947083
Stewart PM, Toogood AA, Tomlinson JW
Horm Res 2001;56 Suppl 1:1-6. doi: 10.1159/000048126. PMID: 11786677
Cahill DJ, Hull MG
Hum Reprod Update 2000 Jan-Feb;6(1):56-66. doi: 10.1093/humupd/6.1.56. PMID: 10711830

Diagnosis

van Winden LJ, van Rossum HH
Adv Clin Chem 2022;108:73-104. Epub 2021 Aug 23 doi: 10.1016/bs.acc.2021.07.007. PMID: 35659062
Khant Aung Z, Grattan DR, Ladyman SR
Mol Cell Endocrinol 2020 Oct 1;516:110933. Epub 2020 Jul 21 doi: 10.1016/j.mce.2020.110933. PMID: 32707081
Frystyk J, Teran E, Gude MF, Bjerre M, Hjortebjerg R
Growth Horm IGF Res 2020 Aug-Oct;53-54:101330. Epub 2020 Jul 4 doi: 10.1016/j.ghir.2020.101330. PMID: 32693362
Dineen R, Stewart PM, Sherlock M
QJM 2017 Jul 1;110(7):411-420. doi: 10.1093/qjmed/hcw004. PMID: 26873451
Stewart PM, Toogood AA, Tomlinson JW
Horm Res 2001;56 Suppl 1:1-6. doi: 10.1159/000048126. PMID: 11786677

Therapy

van Winden LJ, van Rossum HH
Adv Clin Chem 2022;108:73-104. Epub 2021 Aug 23 doi: 10.1016/bs.acc.2021.07.007. PMID: 35659062
Cimino I, Kim H, Tung YCL, Pedersen K, Rimmington D, Tadross JA, Kohnke SN, Neves-Costa A, Barros A, Joaquim S, Bennett D, Melvin A, Lockhart SM, Rostron AJ, Scott J, Liu H, Burling K, Barker P, Clatworthy MR, Lee EC, Simpson AJ, Yeo GSH, Moita LF, Bence KK, Jørgensen SB, Coll AP, Breen DM, O'Rahilly S
Proc Natl Acad Sci U S A 2021 Jul 6;118(27) doi: 10.1073/pnas.2106868118. PMID: 34187898Free PMC Article
Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen CY, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO; AXLES 1 Investigators
J Bone Miner Res 2018 Aug;33(8):1383-1393. Epub 2018 Jun 26 doi: 10.1002/jbmr.3475. PMID: 29947083
Dineen R, Stewart PM, Sherlock M
QJM 2017 Jul 1;110(7):411-420. doi: 10.1093/qjmed/hcw004. PMID: 26873451
Sherlock M, Woods C, Sheppard MC
Nat Rev Endocrinol 2011 May;7(5):291-300. Epub 2011 Mar 29 doi: 10.1038/nrendo.2011.42. PMID: 21448141

Prognosis

Sharma S, Ix JH
Curr Opin Nephrol Hypertens 2023 Jul 1;32(4):330-334. Epub 2023 May 9 doi: 10.1097/MNH.0000000000000900. PMID: 37195253Free PMC Article
Bright GM
Growth Horm IGF Res 2016 Jun;28:62-5. Epub 2016 Jan 18 doi: 10.1016/j.ghir.2016.01.002. PMID: 26822565
Nitta K, Nagano N, Tsuchiya K
Nephron Clin Pract 2014;128(1-2):1-10. Epub 2014 Nov 8 doi: 10.1159/000365787. PMID: 25402964
Sheppard MC
J Endocrinol Invest 2005;28(11 Suppl International):75-7. PMID: 16625851
Van den Berghe G
Front Neuroendocrinol 2002 Oct;23(4):370-91. doi: 10.1016/s0091-3022(02)00006-7. PMID: 12381331

Clinical prediction guides

Sharma S, Ix JH
Curr Opin Nephrol Hypertens 2023 Jul 1;32(4):330-334. Epub 2023 May 9 doi: 10.1097/MNH.0000000000000900. PMID: 37195253Free PMC Article
Bright GM
Growth Horm IGF Res 2016 Jun;28:62-5. Epub 2016 Jan 18 doi: 10.1016/j.ghir.2016.01.002. PMID: 26822565
Nitta K, Nagano N, Tsuchiya K
Nephron Clin Pract 2014;128(1-2):1-10. Epub 2014 Nov 8 doi: 10.1159/000365787. PMID: 25402964
Soliman AT, Khalafallah H, Ashour R
Hemoglobin 2009;33 Suppl 1:S116-26. doi: 10.3109/03630260903347781. PMID: 20001614
Ho KK, O'Sullivan AJ, Weissberger AJ, Kelly JJ
Horm Res 1996;45(1-2):67-73. doi: 10.1159/000184762. PMID: 8742122

Recent systematic reviews

Frater J, Lie D, Bartlett P, McGrath JJ
Ageing Res Rev 2018 Mar;42:14-27. Epub 2017 Dec 9 doi: 10.1016/j.arr.2017.12.002. PMID: 29233786

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