. 2016 Feb 3;101(4):1627–1636. doi: 10.1210/jc.2015-3880

Table 3.

Clinical Features of the X-Linked IGSF1 Deficiency Syndrome

Features	Values, %
Hemizygous males
Central hypothyroidism	100
Low-normal T concentrations in adulthood	88
Adult macroorchidism	88
Delayed pubertal T rise, early/normal timing of testicular growth	75^a
Mild problems with attentional control	75^a
Small thyroid gland	74
Increased waist circumference in adults	59
Prolactin deficiency	61
Late biochemical adrenarche	50^a
Increased waist circumference in children	57
Decreased DHEA in adulthood	40
Benign external hydrocephalus	33^a
Increased birth weight	26
Hypocortisolism in infancy	21
Increased IGF-1 concentrations in adulthood	20
Increased head circumference	20
GHD in childhood	16
Heterozygous females
Delayed age at menarche	31
Prolactin deficiency (non-symptomatic)	22
Central hypothyroidism	18

Based on reported data from current study and other reports (1, 3 –5).

Estimated based on limited data.