Table 2.

Phenotypes of patients with FGFR1 and PROKR2 variants.

Patient	Gene	Sex	Age at diagnosis (years)	Hormonal deficiencies	MRI	Smell test	Other features
I	FGFR1	F	15	GH, LH and FSH	APH, EPP, normal stalk	NL	Japanese ancestry
II	FGFR1	F	4	GH, TSH, LH and FSH	APH, EPP, absent stalk	NL
III	FGFR1	M	16	GH, TSH, ACTH, LH and FSH	APH, EPP, thin stalk	NL	Micropenis
IV	FGFR1	M	15	GH, TSH, LH and FSH	APH, EPP, absent stalk	NL	Micropenis
V	PROKR2	F	19	GH, ACTH, LH and FSH	NAP, APP absent stalk	NL	Diabetes insipidus
VI	PROKR2	F	10	GH, TSH, partial ACTH, LH and FSH	APH, EPP, absent stalk	NL	Diabetes mellitus, facial asymmetry and clinodactyly

F, female; M, male; APH, anterior pituitary hypoplasia; EPP, ectopic posterior pituitary; NAP, normal anterior pituitary; APP, absent posterior pituitary; NL, normal test.