Table 2.

Phenotypical, laboratory results in-vitro Gsα protein activity, and results of mutational analysis of our patients

Patient	A	B	C	D1	D2	E
Age at diagnosis, sex	12 years, male	5.5 years, female	11 month, female	13 years, male	13 years, female	4 years, female
Clinical features	rf, sst, bm, mr,o	rf, bm, o	rf, sst, bm	rf, bm	rf, bm, o	rf, bm, o
AHO Mother	sst, bm	bm	sst, bm	rf, sst, bm	rf, sst, bm	bm
PTH* (pg/ml; normal: 10– 65)	416	133	138	643	544	286
Calcium (mmol/l; normal: 2.1–2.6)	0.84	1.1	normal	1.5	1.9	1.7
Phosphorous (mmol/l; normal: 1.09–2) age- dependent	3	2.7	2.3	3.3	2.3	3.1
TSH (mU/l; normal: 0.5– 4)	9.3	6	4.7	5.9	7.4	4.5
fT3 (pg/ml; normal: 3.3– 6.7)	normal	normal	normal	normal	normal	normal
fT4 (pg/ml; normal: 0.9– 1.6)	normal	normal	normal	normal	normal	normal
Gsα activity in % of healthy controls (normal: 85– 115)	108	102	108	100	105	71
Mutation**	c.1163T>G p.L388R	c.1174G>T p.E392X	c.1174G>A p.E392K	c.1174G>T p.E392X	c.1174G>T p.E392X	c.1163T>C p.L388P

rf: round face, sst: short stature, bm: brachymetacarpia, mr: mental retardation, o: obesity. Values in brackets define the normal range.

^*all laboratory results at the time of initial diagnosis

^**RefSeq: NM_000516.4

Nucleotide numbering reflects cDNA numbering system with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence, according to the journal guidelines (www.hgvs.org/mutnomen).