Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective

Table 2 Table of known phenotypic and non-growth characteristics of SPIGFD

Clinical features	Details
Growth	Normal birth weight and length
	Growth failure from birth
	Height deviation which correlates with low serum IGF-I
	Delayed bone age
	Small hands and/or feet
Craniofacial characteristics	Sparse hair before age 7; fronto-temporal hairline recession at all ages
	Prominent forehead
	Disproportionally large head due to small stature
	“Setting sun sign” (sclera visible above iris at rest) in 25% of patients under the age of 10 years
	Hypoplastic nasal bridge with shallow orbits
	Decreased vertical dimension of face
	Blue sclerae
	Prolonged retention of primary dentition with decal; normal permanent teeth with crowding
	Unilateral ptosis, facial asymmetry
Musculoskeletal composition	Decreased muscle mass with delay in walking
	Avascular necrosis of femoral head (25%)
	High pitched voice
	Thin, prematurely aged skin
	Limited elbow extensibility after 5 years of age
	Low to normal BMI during childhood, developing into high BMI in adulthood
	Markedly decreased ratio of lean mass to fat mass compared to normal
Neurocognition	Impact on brain growth and structure
Neurocognition	Reduced cognitive function and motor performance
Metabolic characteristics	Hypoglycemia
	Increased cholesterol and LDL-C
	Decreased sweating
	Insulin resistance
Sexual development	Small genitalia in males during childhood
	Delayed puberty
	Normal reproduction
Other features	Deafness
Other features	Immunodeficiency or severe immune dysfunction

Source: Guevara-Aguirre et al. 1991 [55]; Laron 2001 [56]; Webb et al. 2012 [57]; Higashi et al. 2019 [58]; Cohen et al. 2014 [4]; Backeljauw et al. 2010 [27]; Bang et al. 2012 [37]; Ascenzi et al. 2019 [59]
This list of non-growth effects of SPIGFD is non-exhaustive; there is currently limited research available on the non-growth effects of SPIGFD available and these remain poorly understood
BMI, body mass index; IGF-I, insulin-like growth factor I; LDL-C, low-density lipoprotein cholesterol; SPIGFD, severe primary IGF-I deficiency

ISSN: 1750-1172