Holoprosencephaly with Endocrine Dysfunction--A Case Report  

Said Azzoug , Mohamed Bendali , Farida Chentli
Endocrinological Department Bab El Oued Hospital Algiers, Algeria
Author    Correspondence author
International Journal of Clinical Case Reports, 2014, Vol. 4, No. 4   doi: 10.5376/ijccr.2014.04.0004
Received: 12 Mar., 2014    Accepted: 28 Mar., 2014    Published: 24 Jul., 2014
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Preferred citation for this article:

Azzoug et al., 2014, Holoprosencephaly with Endocrine Dysfunction--A Case Report, International Journal of Clinical Case Reports, Vol.4, No.4, 1-3 (doi: 10.5376/ijccr.2014.04.0004)


Holoprosencephaly is a brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th days of gestation, four subtypes are described, sometimes it may be familial. Facial anomalies, developmental delay and neurological disorders are the main manifestations but endocrine dysfunction is also frequently reported. We reported the observation of a male patient who presented at 18 years for growth retardation and pubertal delay; hormonal assessment showed growth hormone and gonadotrophins deficiencies, other pituitary functions were normal. MRI imaging found holoprosencephaly and triventricular hydrocephaly but without radiological anomalies of pituitary or pituitary stalk. The patient was treated with growth hormone with a good growth catching and after that he was treated with androgens; hydrocephaly which was only monitored was stable over time. Holoprosencephaly requires a multidisciplinary management; its prognosis depends on the severity of the disease and associated complications.

Holoprosencephaly; Endocrine dysfunction; Prognosis; Case report
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