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Isolated growth hormone deficiency type IB(IGHD1B)

MedGen UID:
411242
Concept ID:
C2748571
Disease or Syndrome
Synonyms: IGHD 1B; IGHD IB; IGHD1B; Isolated growth hormone deficiency type 1B
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): GH1 (17q23.3)
 
Monarch Initiative: MONDO:0013006
OMIM®: 612781
Orphanet: ORPHA231671

Definition

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. [from OMIM]

Additional description

From MedlinePlus Genetics
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).

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.

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.

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.

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 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.  https://medlineplus.gov/genetics/condition/isolated-growth-hormone-deficiency

Clinical features

From HPO
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Acromicria
MedGen UID:
923182
Concept ID:
C1386091
Congenital Abnormality
Small hands and feet in proportion to the rest of the body.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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 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.
Reduced circulating growth hormone concentration
MedGen UID:
1815075
Concept ID:
C5706169
Finding
Concentration of growth hormone in the blood circulation below normal limits.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Isolated growth hormone deficiency type IB in Orphanet.

Recent clinical studies

Diagnosis

Li Q, Xu Z, Zhang M, Zhao Z, Sun B, Yang L, Lu W, Luo F, Sun C
Growth Horm IGF Res 2021 Oct-Dec;60-61:101423. Epub 2021 Aug 3 doi: 10.1016/j.ghir.2021.101423. PMID: 34375817

Prognosis

Li Q, Xu Z, Zhang M, Zhao Z, Sun B, Yang L, Lu W, Luo F, Sun C
Growth Horm IGF Res 2021 Oct-Dec;60-61:101423. Epub 2021 Aug 3 doi: 10.1016/j.ghir.2021.101423. PMID: 34375817
Abdul-Latif H, Leiberman E, Brown MR, Carmi R, Parks JS
J Pediatr Endocrinol Metab 2000 Jan;13(1):21-8. doi: 10.1515/jpem.2000.13.1.21. PMID: 10689634

Clinical prediction guides

Li Q, Xu Z, Zhang M, Zhao Z, Sun B, Yang L, Lu W, Luo F, Sun C
Growth Horm IGF Res 2021 Oct-Dec;60-61:101423. Epub 2021 Aug 3 doi: 10.1016/j.ghir.2021.101423. PMID: 34375817
Abdul-Latif H, Leiberman E, Brown MR, Carmi R, Parks JS
J Pediatr Endocrinol Metab 2000 Jan;13(1):21-8. doi: 10.1515/jpem.2000.13.1.21. PMID: 10689634

Recent systematic reviews

Li Q, Xu Z, Zhang M, Zhao Z, Sun B, Yang L, Lu W, Luo F, Sun C
Growth Horm IGF Res 2021 Oct-Dec;60-61:101423. Epub 2021 Aug 3 doi: 10.1016/j.ghir.2021.101423. PMID: 34375817

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