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Isolated congenital growth hormone deficiency

MedGen UID:
1843308
Concept ID:
C5679572
Disease or Syndrome
Synonym: Isolated growth hormone deficiency
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).
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.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0000050
OMIM® Phenotypic series: PS262400
Orphanet: ORPHA631

Definition

A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature. [from ORDO]

Professional guidelines

PubMed

Alatzoglou KS, Dattani MT
Indian J Pediatr 2012 Jan;79(1):99-106. Epub 2011 Dec 3 doi: 10.1007/s12098-011-0614-7. PMID: 22139958
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

Levy JB, Husmann DA
J Urol 1996 Jul;156(1):214-6. doi: 10.1016/s0022-5347(01)66003-8. PMID: 8648808

Diagnosis

Lee PA, Mazur T, Houk CP, Blizzard RM
Pediatrics 2018 Jul;142(1) doi: 10.1542/peds.2017-4168. PMID: 29959177
Levy JB, Husmann DA
J Urol 1996 Jul;156(1):214-6. doi: 10.1016/s0022-5347(01)66003-8. PMID: 8648808

Therapy

Lee PA, Mazur T, Houk CP, Blizzard RM
Pediatrics 2018 Jul;142(1) doi: 10.1542/peds.2017-4168. PMID: 29959177
Levy JB, Husmann DA
J Urol 1996 Jul;156(1):214-6. doi: 10.1016/s0022-5347(01)66003-8. PMID: 8648808

Prognosis

Levy JB, Husmann DA
J Urol 1996 Jul;156(1):214-6. doi: 10.1016/s0022-5347(01)66003-8. PMID: 8648808

Clinical prediction guides

Levy JB, Husmann DA
J Urol 1996 Jul;156(1):214-6. doi: 10.1016/s0022-5347(01)66003-8. PMID: 8648808

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