Eight of nine patients with GHD were male with age at diagnosis 3.6 years to 19 years. x Ray examination revealed delayed bone age in all patients, with a mean delay in bone age at time of diagnosis of 1.7 years. All patients had an IGF‐1 level below normal limits for Tanner stage. All patients had a height more than 1.5 standard deviations (SD) below mean height for age, with an average of 2.8 SD below the mean, and six of seven patients had significantly abnormal growth velocities (table 1).
Table 1Characteristics of nine patients with SWS and GHD
GHD was verified with data from formal GH stimulation testing with one or two agents, as indicated. All subjects had subnormal peak GH levels on provocative testing with normal thyroid hormone levels at the time of GH testing. Information on priming with sex steroid is not available (table 2).
Table 2Results of testing and response to treatment
Patients were started on GH at doses ranging from 0.2 to 0.3 mg/kg/wk. Mean growth velocity was 3.4 cm/y prior to treatment and 9.5 cm/y over the first year of treatment. The seven patients with adequate follow up data (patients 2–8) had improvement in height SD following GH treatment, with five patients at or near adult stature at the time of last measurement (patients 3, 5, 6, 7, 8) (table 2).
Brain MRI or head CT reports were available for eight of the nine subjects with GH deficiency. There were no pituitary abnormalities documented in any of the studies. However, small optic nerves were noted in the MRI report of subject 9.
Several patients with GH deficiency were also found to have other central hormonal abnormalities. Patient 1 had no evidence of puberty at age 20 despite a bone age of 13 years, with biochemical results suggestive of central gonadotropin deficiency. Patient 3 had onset of breast development at age 9, but had not undergone menarche by age 16. Records of her work‐up for amenorrhea are not available. Patient 7 was diagnosed with partial ACTH deficiency after measurement of cortisol levels following hypoglycaemia revealed a peak of 334 nMol/l.