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Endocrine Abstracts (2021) 73 AEP517 | DOI: 10.1530/endoabs.73.AEP517

ECE2021 Audio Eposter Presentations Pituitary and Neuroendocrinology (113 abstracts)

Septooptic dysplasia -a rare cause of congenital hypopitutarism

Valentina Soldat Stankovic1, 2, Snjezana Popovic Pejicic1, 2, Gabrijela Malesevic1, 2, Aleksandra Grbic1, 2 & Bojana Caric1, 2


1University Clinical Centre of the Republic Srpska, internal medicine, Banja Luka, Bosnia and Herzegovina; 2University of Banja Luka, Faculty of medicine, Banja Luka, Bosnia and Herzegovina


Septooptic dysplasia is a clinically heterogeneous disorder characterized by optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.clinical diagnosis requires the presence of at least two of the features of the classical triad. Here is male presented on endocrinology consult for the first time at the age of thirthy five. On clinical examination height and weight were normal, face hypogonadal, sparced facial and body hair, testicle hypotrophy, normocytic anemia, reduced bone mineral density. Hormonal analyses showed complete deficiency in pituitary hormones. On MRI study there was corpus callosum agenesis and partial agenesis of the septum pellucidum, empty sella and hypoplastic hypothalamus. Ophtalmology evaluation revealed temporal paleness of optic discs and nonspecific peripheral visual field defects without significat visual impairment. Septooptic dysplasia is rare cause of congenital hypopitutarism. Most patient present with two out of three features, among which hypopitutarism with midline brain defects, presented here, is the rarest combination. Hypopituitarism varies from one to more hormone deficiencies, and during time additional hormone deficinecies may develop. Some patient, like the one presented here, has normal height despite growth hormone defiency, paradoxical growth without growth hormone, attributed to insulin and other growth stimulatory factors.

Volume 73

European Congress of Endocrinology 2021

Online
22 May 2021 - 26 May 2021

European Society of Endocrinology 

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