Table 2.

Laboratory and imaging findings.

	Case 1	Case 2	Case 3
Endocrinological parameters
Prolactin
IGF-1	42 ng/mL	45.25 ng/mL	18.35 ng/mL
IGFBP-3	52 (−2.8 SDS)	8.0 ng/mL (−3.6 SDS)
TSH	3,460 (−3.7 SDS)	2,000 ng/mL (−0.33 SDS)
fT4	8.20 μ1u/mL	3.07 μ1u/mL	0.73 μ1u/mL
ACTH	9.2 pmol/L	19.45 pmol/L	13.54 pmol/L
Plasma Cortizol	57.94 pg/mL	33.4 pg/mL	9.54 pg/mL
LH	18.77 μg/dL	15.08 μg/dL	32.06 μg/dL
FSH	<0.1 mIU/mL	<0.1 mIU/mL	<0.2 mIU/mL
DHEAS	1.03 mIU/mL	<0.3 mIU/mL	0.57 mIU/mL
Testosterone
17-OH Progesterone		<0.1 ng/dL
Estradiol	0.75 ng/mL 29.21 pg/mL
Pituitary magnetic resonance imaging (MRI)	Normal	Normal	Normal
Cranial MRI	Cerebral atrophy, ventricular enlargement	Normal	White matter posterior diffusion restriction, Focal atrophy compatible with old ischemia in left-back parietal (MR spectroscopy: Normal)
Echocardiography	Normal (Holter: Normal)	Concentric hypertrophy of the left ventricle	Normal
PHOX2B mutation	PHOX2B (–)	Unknown	Unknown
SNRPN (15q11–q13) mutation	SNRPN Unknown

Parameters in bold are pathological.