The patient was a 17-year-old boy on rhGH therapy for 14 years because of a GH deficiency that was diagnosed at the age of 2 years and 3 months. Therapy was stopped 9 months before the beginning of symptoms—fatigue, decreased muscle strength and severe headache. However, the patient had not come for retesting one month after discontinuation of rhGH treatment.\nThe propositus was the first child of non-consanguineous Italian parents. The mother was in treatment for post-partum depression. The maternal grandfather was in treatment for autoimmune hyperthyroidism.\nThe mother’s height was 152 cm and she had menarche at the age of 13; the father’s height was 168 cm and he had a normal development. The target height was 166.0 ± 6.0 cm (−1.70 SDS). All auxological data were normalized for chronological age by conversion to standard deviation scores (SDS) that were calculated according to the following formula: patient value - mean of age-related reference value/standard deviation of the age-related reference value [].\nThe child was born at 40 weeks of gestation with an uncomplicated delivery. The birth weight was 2970 g (−1.15 SDS), length at birth was 50 cm (−0.30 SDS), and his occipito-frontal head circumference (OFC) was 34 cm (−0.61 SDS). He had neonatal jaundice requiring phototherapy. The child’s neuromotor development was normal: he sat at 6 months, walked independently at 12 months, and began to use language at 14 months.\nAt 6 months, the patient exhibited very deficient growth (Fig. ). At 2 years and 3 months, he was admitted to our Paediatric Endocrine Unit for an endocrinological evaluation. His height, evaluated according the growth charts compiled by Cacciari et al. [], was 78.6 cm (−2.79 SDS). His weight was 9.830 kg (−2.78 SDS), and his BMI was 15.91 (−0.28 SDS) (Fig. ). Extensive biochemical, endocrinological and metabolic examinations did not reveal any abnormalities with the exception of plasma concentrations of IGF-I and IGFBP-3 that were low for his age and sex: 27 ng/mL and 1.38 μg/mL, respectively. Thus, GH stimulation tests were performed and showed a reduced response after the clonidine (GH peak of 5.2 ng/mL) and insulin (glucose nadir 2.0 mmol/L at 30 min; GH peak of 3.9 ng/mL) tests. This revealed a GH deficiency (GHD). Bone age was assessed according to the Greulich and Pyle method [], and it was delayed (1 year and 2 months versus a chronological age of 2 years and 3 months). Brain MRI of the hypophyseal region showed the presence of a pituitary hypoplasia (height 1.8 mm and width 2.7 mm). Consequently, hGH therapy (0.22 mg/kg/wk) was started.\nThe child responded very well to rhGH treatment (Fig. ) and at 3 years and 4 months old, his height was 94.5 cm (−1.14 SDS), weight 12.450 kg (−2.10 SDS), height velocity 15.06 cm/yr (5.05 SDS), and BMI 13.94 (−1.75 SDS). At 4 years and 3 months old, his height was 101.9 cm (−0.82 SDS), his weight was 15.300 kg (−1.24 SDS), his height velocity was 8.05 cm/yr (1.12 SDS), and his BMI was 14.73 (−0.82 SDS).\nThe onset of puberty occurred at 12 years old with normal onset, timing, tempo, and magnitude of pubertal changes []. He stopped rhGH treatment at 16 years and 3 months old when he reached the definitive stature []: his height was 170.8 cm (−0.64 SDS) and his weight was 51.800 kg (−1.56 SDS) with a BMI of 17.76 (−1.63 SDS) (Fig. ).\nAt 17 years old, his GH secretion was re-tested by the growth-hormone-releasing hormone (GHRH) + arginine test, which is a reliable test of ITT in retesting patients who had undergone GH treatment in childhood []. The test confirmed a severe GH deficiency (basal GH value of 0.18 ng/mL; GH peak of 2.42 ng/mL).\nMRI angiography was performed because of the severe growth hormone deficiency (GHD) and headache; it confirmed the presence of adenohypophyseal hypoplasia (height 2.5 mm and width 3.5 mm) with a lack of posterior pituitary hyperintensity. The MRI angiography also showed the absence of a normal flow void in the left ICA (Fig. ).\nNo abnormal findings were noted in the electrocardiogram. Chromosomal studies of the peripheral lymphocyte cultures revealed a 46,XY normal male karyotype. An array of CGH analyses on the patient’s DNA was performed with an Agilent 60 K array platform with a resolution of approximately 100 kb. No genomic imbalances were detected. A complete examination was performed with particular attention to neurology, metabolism, and endocrinology (Table ). The only abnormal result was a very low IGF-I value (31 ng/mL). In light of these results, the patient restarted rhGH therapy, and his symptoms at the time of referral disappeared.
A 42-year-old woman applied to the ophthalmology department with a complaint and history of a half-hour-long visual loss of her left eye one day ago. At clinical examination, both of her eyes were found to have full vision, and also microscopic fundus examinations revealed no pathological conditions. The patient gave a history of a prior application to an outer medical center with the same complaint, and there she had been diagnosed with a left ICA occlusion, following Doppler US and angiographic examinations. The patient applied to our department with the demand of an extracranial carotid Doppler US examination. At Doppler US, the right CCA diameter was found to be 8 mm, whereas the left one came out to be 4 mm (Figures and ). The right CCA bifurcation and the ICA and ECA were found to be normal. At the left side, spectral data for the ECA () and the particular branching which demonstrates that the vessel is ECA indeed were present, whereas there was no Doppler signal and gray-scale findings for the ICA (). Because the left CCA was hypoplastic and there were no findings of atherosclerotic plaques in other arterial segments; it was thought that the left ICA might not be suffering an occlusion at all, but instead it might well be agenetic. Based on the presumption of an ICA agenesis, a computed tomographic (CT) examination of the skull base was performed. CT images revealed a normally appearing right carotid canal but no clear image of the left one (). Then, the previous angiographic images of the patient were reevaluated, and it was then recognized that the left ECA and its branches were well visible, while the left ICA and its branches did not show any filling with contrast (). It was also noted that the filling of the left anterior and medial cerebral arteries was sustained by the patent anterior communicating artery following the injection of contrast into the right carotid artery () and also via the posterior communicating artery following the injection of the vertebrobasilary system (). In addition to the ICA agenesis, another surprising finding was that the right vertebral artery was not stemming from the right subclavian artery but instead was originating from the aortic arch, as its first branch (). It was finally understood that the patient did not have an occlusion of the left ICA, but instead her left ICA was agenetic. She also had an additional aortic arch anomaly. At the end, it was concluded that an ipsilateral CCA hypoplasia might be taken as a valuable clue in the differential diagnosis of ICA agenesis and occlusion.