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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: A case report
Pituitary, Volume 15, No. 1 SUPPL., Year 2012
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Description
Agenesis of internal carotid artery (ICA) is an unusual finding in subjects with congenital Combined Pituitary hormone deficiency (CPHD) with only nine cases being reported to date but to our best knowledge none of them was genetically investigated. A 10-years old girl presented with severe growth failure (height 103 cm) with substantial bone age delay (3 years). She had no history of perinatal insults or familial CPHD. There was no evidence of mental retardation or craniofacial dysmorphism or ophtalmological abnormalities. She was first diagnosed with GH and TSH deficiency. Cerebral magnetic resonance imaging (MRI) showed hypoplastic anterior pituitary, flat sella turcica, absent pituitary stalk with ectopic posterior pituitary as well as agenesis of the left ICA and the left carotid canal. Genomic analysis of pituitary transcription factor HESX1, LHX4 and OTX2 showed no mutations. Treatment with GH and thyroxine was started. The patient remained free of neurovascular symptoms for 5 years but she presented at the age of 15 years with delayed puberty related to an evolving gonadotropin deficiency. ICA agenesis associated with CPHD is unusual and is often asymptomatic in children. Since the CPHD with pituitary stalk interruption cannot be due to HESX1, LHX4 or OTX2 mutation in our case, other pathogenetic mechanisms may be responsible for CPHD associated with unilateral ICA agenesis. © 2012 Springer Science+Business Media, LLC.
Authors & Co-Authors
Lamine, Faïza
Tunisia, Tunis
Hôpital la Rabta
Kanoun, Faouzi
Tunisia, Tunis
Hôpital la Rabta
Chihaoui, Melika
Tunisia, Tunis
Hôpital la Rabta
Saveanu, Alexandru
France, Marseille
Hopital de la Conception
Menif, Emna
Tunisia, Tunis
Hôpital la Rabta
Barlier, Anne
France, Marseille
Hopital de la Conception
Enjalbert, Alain
France, Marseille
Hopital de la Conception
Brue, Thierry C.
France, Marseille
Hopital la Timone
Slimane, Hédia
Tunisia, Tunis
Hôpital la Rabta
Statistics
Citations: 10
Authors: 9
Affiliations: 3
Identifiers
Doi:
10.1007/s11102-012-0411-y
ISSN:
1386341X
e-ISSN:
15737403
Research Areas
Cancer
Health System And Policy
Maternal And Child Health
Violence And Injury
Participants Gender
Female