Table 3.

Clinical and Auxological Details of the Patients With Homozygous GHR Pseudoexon (6ψ) Mutations

Family	Patient	Age (y)	Sex	Height SDS	BMI SDS	Birth Weight SDS	Target Height SDS	Ethnicity/Consanguinity	GHI Classical Facial Features
A	1a	1.3	M	−1.7	−4.9	−0.2	−2.2	Pak/+	No
	2a	3.7	M	−5.9	−2.0	0.3	−2.2	Pak/+	No
	3a	8.3	M	−3.3	−0.4	NK	−1.6	Pak/+	No
	4a	3.8	M	−3.6	−0.5	−0.1	−1.6	Pak/+	No
	5a	1.2	F	−4.4	+1.8	0.7	−2.4	Pak/+	No
	6	2.5	F	−4.4	−0.1	−1.8	NK	Pak/+	Yes
B	1a	1.6	F	−5.6	−2.4	−1.4	−1.4	Pak/+	Yes
C	1a	NK	M	−5.0	NK	NK	NK	Palestine-Arab/+	Yes
D	1a	3.3	M	−4.9	0.1	NK	NK	Pak/+	No
	2a	8.1	M	−3.3	−2.4	−1.5	NK	Pak/+	No
E	1a	5.4	F	−3.5	0.02	NK	NK	Pak/+	No
	2a	NK	F	−4.0	NK	NK	NK	Pak/+	No
F	1	7.0	M	−4.2	−0.5	−0.5	−0.9	Pak/+	No
G	1	2.6	M	−3.8	−2.9	−2.9	−1.3	Pak/+	Yes
	2	3.7	F	−4.2	−0.9	0.1	0.7	Pak/+	Yes
H	1	5.7	M	−3.0	−0.7	0.7	−0.7	Pak/+	Yes
	2	1.5	F	−4.7	−1.2	NK	−0.7	Pak/+	Yes
I	1	2.3	F	−4.3	−1.7	−1.7	−1.6	Ind/−	Yes
J	1	5.3	F	−4.0	0.4	0.1	−1.6	Pak/+	Yes
K	1	4.3	F	−4.1	−0.2	−0.3	−0.9	Pak/+	Yes

Age and height SDS are at presentation. GHI facial features include frontal bossing and midfacial hypoplasia. +, parents consanguineous; −, parents not consanguineous. [Reproduced with permission from Chatterjee S, Shapiro L, Rose SJ, et al. Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. Eur J Endocrinol 2018;178:481–489.]

Abbreviations: Ind, Indian; NK, not known; Pak, Pakistani.

^aPatients previously reported (32, 35).