Table 3.

Human SECISBP2 Mutations: A Multisystem Disorder with a Thyroid Signature

Family	[Se]	TT4	FT4	TT3	rT3	TSH	Growth and skeletal	Musculoskeletal	Neurocognitive	Hearing	Other
A	L	H	H	L	H	H	Short stature, DBA	N/A	Normal mental development	Normal	N/A
B	L	H	H	N/L	H	N	Short stature, DBA	N/A	N/A	Normal	N/A
C	L	H	H	N/L	H	N	Short stature, DBA	N/A	N/A	N/A
D	L	H	H	N/L	H	H	Short stature, DBA, kyphoscoliosis	Hypotonia, hip girdle weakness, spirometry: reduced expiratory and inspiratory flow, fatty infiltration of muscle	Impaired mental development and motor coordination	Bilateral sensorineural loss	Failure to thrive, bilateral clinodactyly, asymmetric leg length, peripheral sensory neuropathy, and increased fat mass
E	L	N/A	H	N	N/A	N	Short stature, genu valgus	Lumbar spinal rigidity, reduced axial and neck strength, spirometry: reduced vital capacity, nocturnal hypoventilation, fatty infiltration of muscle	Developmental delay	Bilateral sensorineural loss, vertigo	Azoopsermia, Raynauds disease, photosensitivity, mild lymphopenia and reduced red cell mass, low insulin and high adiponectin levels, favorable blood lipid profile, and low intrahepatic lipid
F	L	N/A	H	L	N/A	N	Short stature	Proximal and axial myopathy, lumbar rigidity, fatty infiltration of adductor muscles	Developmental delay	Bilateral sensorineural loss	Failure to thrive, eosinophilic colitis, increased fat mass, high adiponectin levels, and hypoglycemia with low fasting insulin
G	L	N/A	H	N/L	N/A	N/H	Short stature, DBA	Fatty infiltration of muscles	Delayed motor and intellectual development, IQ 70	Bilateral mild conductive loss rotatory vertigo	Failure to thrive, hypoplastic thyroid gland, no photosensitivity, and increased fat mass
H	L	H	H	L	H	N/H	Short stature	N/A	Mental and motor retardation, IQ 50	N/A	N/A
I	N/A	H	H	L	H	N	DBA	N/A	N/A	N/A	Failure to thrive
J	L	H	H	L	H	N/H	Decreased growth velocity from 13 years	Muscle weakness, fatty infiltration of the muscles	Normal early development	Normal	Right-eye ptosis, attention-deficit disorder with poor school performance, impaired growth hormone response, obese (body mass index 29.5), and impaired OGTT
K	N/A	H	H	L	H	N	Short stature, DBA	N/A	Developmental delay	N/A	Failure to thrive
L	L	H	H	L	H	N	Delayed growth	Hypotonia, myopathy with fatty infiltration of muscles, and ataxic gait	Developmental delay	Bilateral sensorineural loss	Dysarthic speech, tapered fingers, seizures, and increased fat mass

DBA, delayed bone age; FT4, free thyroxine; H, high; IQ, intelligence quotient; L, low; N, normal; N/H, high-normal; N/L, low normal; OGTT, oral glucose tolerance test; rT3, reverse triiodothyronine; Se, selenium; T3, triiodothyronine; T4, thyroxine; TSH, thyroid stimulating hormone; TT3, total triiodothyronine; TT4, total thyroxine; TSH, thyroid stimulating; hormone.