Pituitary Dwarfism 1

Last update 08 May 2025

Basic Info

Synonyms

Ateleiotic dwarfism, Ateleiotic dwarfism (disorder), Ateliotic dwarfism

+ [27]

Introduction-

100 Clinical Results associated with Pituitary Dwarfism 1

100 Translational Medicine associated with Pituitary Dwarfism 1

0 Patents (Medical) associated with Pituitary Dwarfism 1

115

Literatures (Medical) associated with Pituitary Dwarfism 1

01 Feb 2025·Clinical Case Reports

Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1–4 of GH1 Gene: A Case Report

Article

Author: Alan, Mahnaz Seifi ; Savad, Shahram ; Noorian, Shahab ; Aghamahdi, Fatemeh ; Soltani, Hedieh

ABSTRACTIsolated growth hormone deficiency (IGHD) IA is inherited autosomal recessively and occurs due to GH1 gene deletions. This study emphasizes the importance of clinical diagnosis and molecular examination for detecting novel mutations to prevent misdiagnosis and to consider timely and appropriate management of the current and long‐term consequences of the defect, such as additional deficiencies. We report a male infant who initially presented with a growth delay (‐4SD) at 4 months old, and at 16 months old, was referred to our endocrinology department. Physical examination revealed developmental delay, macrocephaly, head lag, loose body, large head circumference, low and flat nasal bridge, forehead protuberance, three‐pronged fingers, shortness of the hands and feet joints, small palms and plantar, small penises, delayed tooth eruption, and disability to walk. His hormonal tests showed normal free T4 (14.08 pmol/L), upper limit TSH level (5.41 μIU/mL), normal random cortisol 8 AM (250.53 μg/mL), mild high ACTH level (79.6 pg/mL), low IGF1 (13.0) and fasting GH (0.03 ng/mL). GH (ng/mL) maximal response to the arginine test was < 0.05. Whole Exome Sequencing, Polymerase Chain Reaction (PCR), and Quantitative Real‐Time PCR were performed on a peripheral blood sample obtained from the patient. The infant was found to have a homozygous large deletion of approximately 1.6 kb spanning the GH1 gene, which contained exons 1–4 with an autosomal recessive inheritance and a heterozygous deletion of exons 1–4 of GH1 in the parents and homozygous wild‐type in the sibling. Novel mutations in the GH‐1 gene cluster are considered an important cause of idiopathic congenital IGHD. As a result, the role of gene sequencing, besides considering clinical features, should not be neglected.

01 Jan 2024·Hormone Research in Paediatrics

Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency

Article

Author: Aslanger, Ayça Dilruba ; Darendeliler, Feyza ; Yavas Abali, Zehra ; Toksoy, Güven ; Uyguner, Zehra Oya ; Karaman, Volkan ; Bas, Firdevs ; Bagirova, Gulandam ; Öztürk, Ayşe Pınar ; Poyrazoglu, Sukran

Introduction: Genetic forms of growth hormone deficiency (GHD) may occur as isolated GHD (IGHD) or as a component of multiple pituitary hormone deficiency (MPHD). This study aimed to present the clinical and molecular characteristics of patients with IGHD/MPHD due to the GH1 gene variants. Methods: A gene panel accommodating 25 genes associated with MPHD and short stature was used to search for small sequence variants. Multiplex ligation-dependent probe amplification was performed in patients with normal panel results to investigate gross deletion/duplications. Segregation in the family was performed by Sanger sequencing. Results: The GH1 gene variants were detected in 5 patients from four unrelated families. One patient had IGHD IA due to homozygous whole GH1 gene deletion and one had IGHD IB due to novel homozygous c.162C>G/p.(Tyr54*) variant. Two patients from a family had previously reported heterozygous c.291+1G>A/p.(?) variant in which clinical and genetic characteristics were compatible with IGHD II accompanying MPHD. One patient had clinical and laboratory characteristics of IGHD II with MPHD but the heterozygous c.468 C>T/p.(R160W) variant had conflicting results about the relationship with the phenotype. Conclusion: Expanding our knowledge of the spectrum of GH1 gene variants by apprehending clinical and molecular data of more cases, helps to identify the genotype-phenotype correlation of IGHD/MPHD and the GH1 gene variants. These patients must be regularly followed up for the occurrence of additional pituitary hormone deficiencies.

13 Oct 2023·Medicine

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review

Review

Author: Li, Junsheng ; Liu, Lifang ; Hu, Hui ; Tang, Ping ; Li, Jiarui ; Liu, Jiao

Background:The pathogenic mutation of short stature homeobox (SHOX) gene is one of the main genetic causes of short stature in children, with an incidence rate of 1/1000~1/2000 and the main clinical manifestations are short stature and (or) limb skeletal abnormalities. SHOX gene mutations are mostly large deletions of regulatory sequence genes, while exon mutations are relatively rare. The pathogenic rate of mutations occurring in exon 5 is only 1/50 000~1/100 000. This study reviewed the clinical data of a child with SHOX gene mutation in exon 5, and analyzed the clinical phenotype, pathogenesis, diagnosis, treatment and prognosis of SHOX gene mutation in combination with relevant literature at home and abroad.Case presentation:The patient was an 8-year-old girl with a height of 105.2 cm (−4.31 standard deviations). Her sitting height/height ratio was 56.8% (>55.5%), and she exhibited high-arched palate, irregular dentition, micrognathia, short fingers, and a normal growth hormone stimulation test. Whole-exome sequencing was performed, and Sanger sequencing was used for site validation. The sequencing results revealed a heterozygous mutation of c.577G > A in exon 5 of the SHOX gene, inherited from the father. The clinical symptoms of the proband were consistent with the phenotype of short stature idiopathic familial associated with SHOX gene mutations. The father, grandfather, uncle, and sister of the proband all had the c.577G > A heterozygous mutation. Therefore, the clinical diagnosis was childhood short stature caused by SHOX gene defects. The SHOX: c.577G > A mutation is likely to be the genetic etiology of familial idiopathic short stature in this family, and this novel mutation enriches the mutation spectrum of the SHOX gene.Conclusion:This is the first case report of familial idiopathic dwarfism caused by mutation at the c.577G > A locus of exon 5 of SHOX gene in the world. This novel mutation enriches the mutation spectrum of the SHOX gene. It is important to emphasize genetic testing, including the SHOX gene, in patients with familial idiopathic short stature and to provide timely growth hormone therapy to individuals with short stature caused by SHOX gene mutations in order to improve their adult height.

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Pituitary Dwarfism 1

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