Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review.
BACKGROUND
Agenesis of the internal carotid artery (ICA) is a rare congenital abnormality, sporadically reported to be associated with a combined congenital hypopituitarism. Nevertheless, only a few cases have been extensively described, and none of these have been characterized by an isolated growth hormone (GH) deficiency.


METHODS
Here, we describe a 17-year old boy referred to our hospital for fatigue, decreased muscle strength and severe headache reported after the cessation of rhGH treatment for a GH deficiency diagnosed at the age of 2 years and 3 months. Magnetic resonance imaging (MRI) showed an adenohypophyseal hypoplasia with a lack of posterior pituitary hyperintensity, whereas MRI angiography indicated the absence of a normal flow void in the left ICA. Endocrinological tests confirmed the GH deficiency (GH peak after growth-hormone-releasing hormone (GHRH) + arginine: 2.42 ng/mL) with a very low IGF-I value (31 ng/mL) and normal function of other pituitary axes.


CONCLUSIONS
To the best of our knowledge this is the first confirmed case of an isolated GH deficiency in a patient with ICA agenesis. The presence of an isolated pituitary deficit is unlike to be considered only as an effect of hemodynamic mechanism, suggesting a role for genetic factor(s) as a common cause of these two rare birth defects. Further studies could clarify this issue and the underlying mechanisms to better understand the etiopathogenetic characteristics of this disorder.
Paediatric Endocrinology Unit, Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Viale Pieraccini 24, 50139, Florence, Italy. stefano.stagi@yahoo.it.
Stefano
S
Stagi
Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. giovanna.traficante@meyer.it.
Giovanna
G
Traficante
Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. elisabetta.lapi@meyer.it.
Elisabetta
E
Lapi
Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. marilena.pantaleo@meyer.it.
Marilena
M
Pantaleo
Paediatric Endocrinology Unit, Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Viale Pieraccini 24, 50139, Florence, Italy. beccianisabrina@hotmail.it.
Sabrina
S
Becciani
Radiology Unit, Anna Meyer Children's University Hospital, Florence, Italy. marzia.mortilla@meyer.it.
Marzia
M
Mortilla
Paediatric Endocrinology Unit, Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Viale Pieraccini 24, 50139, Florence, Italy. seminara@unifi.it.
Salvatore
S
Seminara
Paediatric Endocrinology Unit, Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Viale Pieraccini 24, 50139, Florence, Italy. maurizio.demartino@unifi.it.
Maurizio
M
de Martino
D000293:Adolescent; D002343:Carotid Artery, Internal / Q000473:pathology*; D004393:Dwarfism, Pituitary / Q000150:complications*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011379:Prognosis
D019382:Human Growth Hormone