IllnessGrowth hormone deficiency

NGS +

Sanger

Growth hormone (GH) deficiency in childhood has a prevalence of 3-25/100 000. Yet more than half a century after the introduction of GH treatment, the diagnostics still does not conform with evidence-based, generally accepted practice. In most affected children, the cause of GH deficiency is idiopathic. The rare monogenic forms may occur in isolation or in combination with other pituitary hormone deficiencies. In isolated GH deficiency type IA, GH is absent, and growth restriction is evident at birth. Patients with isolated type IB GH deficiency produce very low levels of functional hormone. As a result, type IB is usually characterized by less pronounced short stature that becomes apparent only in early to middle childhood. Isolated GH deficiency is caused by mutations in one of at least three genes: type IA is caused by mutations in the GH1 gene, while type IB is caused by mutations in either the GH1 or GHRHR genes. GH1 mutations prevent or impair the production of GH. Without sufficient GH, the body cannot grow normally (type IA, IB, II). If GH therapy is started early, the treatment is very efficient in terms of linear growth, and the expected familial height is achieved with good quality of life in old age. Isolated GH deficiency types IA and IB are inherited in an autosomal recessive manner. The DNA diagnostic yield is low, and a negative mutation result in the GH1 gene does not exclude clinical diagnosis.

References: https://www.frontiersin.org/articles/10.3389/fendo.2019.00602/full

https://www.awmf.org/uploads/tx_szleitlinien/174-002l_S2e_Diagnostik-des-Wachstumshormonmangels-im-Kindes-und-Jugendalter_2022-04.pdf

• Congenital isolated growth hormone deficiency type IA (GH1)
• GH1 deficiency (GH1)
• Isolated growth hormone deficiency type IA (GH1)
• Pituitary dwarfism I (GH1)