Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.

What Was Tested

Researchers studied Exogenous HGH, sermorelin & older GHRPs (why they're passed over) in this observational study publication.

Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA).

Cases of growth failure and hypoglycemia have been reported in patients with MCAP, raising the suspicion for unappreciated growth hormone (GH) deficiency.

Who Took Part

According to the abstract, 7 participants were involved.

PubMed indexes the participants as infants, young children and children, both men and women.

How the Study Was Run

The design is described as multicenter.

More than one site took part, so the participants came from several places.

What Was Measured

Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA).

Seven underwent GH stimulation testing and all had insufficient responses with a median GH peak of 3.7 ng/ml (range 1.1-8.6).

Topics PubMed links to this paper include Brain, Capillaries, Class I Phosphatidylinositol 3-Kinases, Genetic Predisposition to Disease, Growth Hormone, Hypoglycemia and Mutation.

The authors tagged it with the keywords PIK3CA, growth hormone deficiency and megalencephaly-capillary malformation syndrome.

What This Means in Plain Language

The paper is a multicenter study of Exogenous HGH, sermorelin & older GHRPs (why they're passed over) in 7 participants.

With fewer than 40 people, it is a small study, so it is better read as an early signal for further research than as a settled answer.

The publication is from 2020 (American journal of medical genetics. Part A), a journal based in United States.

More context: the Exogenous HGH, sermorelin & older GHRPs (why they're passed over) compound page, all human trials.