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01.12.2015 | Case report | Ausgabe 1/2015 Open Access

BMC Endocrine Disorders 1/2015

Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review

BMC Endocrine Disorders > Ausgabe 1/2015
Stefano Stagi, Giovanna Traficante, Elisabetta Lapi, Marilena Pantaleo, Sabrina Becciani, Marzia Mortilla, Salvatore Seminara, Maurizio de Martino
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​s12902-015-0037-y) contains supplementary material, which is available to authorized users.

Competing interests

Stefano Stagi (SStagi), Giovanna Traficante (GT), Elisabetta Lapi (EL), Marilena Pantaleo (MP), Sabrina Becciani (SB), Marzia Mortilla (MM), Salvatore Seminara (SSeminara) and Maurizio de Martino (MdM) have no financial interests to disclose and no conflict of interest to declare.

Authors’ contributions

SStagi carried out the endocrinological evaluation, conceived of the study, and participated in its design. GT performed the clinical genetic evaluation, conceived of the study, and participated in its design. EL performed the clinical genetic evaluation, and revised critically the manuscript. MP performed the molecular genetic studies, participated in the acquisition of data, and was involved in drafting the manuscript. SB performed the endocrinological evaluation, participated in the acquisition of data, and was involved in drafting the manuscript. MM performed the neuroradiological evaluation, was involved in drafting, and revised critically the manuscript. SSeminara performed the endocrinological evaluation and revised critically the manuscript. MdM participated in the endocrinological evaluation and participated in its coordination. All authors read and approved the final manuscript.



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.

Case presentation

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.


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.
Additional file 1: CARE guidelines checklist of our Case Report. (DOCX 14 kb)
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