Abstract

CASELLA, Ana Clara; MENDOZA, Beatriz; CHAQUIRIANI, Virginia  and  PINEYRO, Mercedes. Septo-optic dysplasia (de Morsier syndrome) with hypopituitarism and its multiple complications: A case report and literature review. Rev. Méd. Urug. [online]. 2023, vol.39, n.4, e701.  Epub Dec 01, 2023. ISSN 0303-3295.  https://doi.org/10.29193/rmu.39.4.7.

The study presents the case of a patient with septo-optic dysplasia (SOD), also known as de Morsier syndrome, which is a rare congenital disorder. It is characterized by a combination of abnormalities, including optic nerve hypoplasia, pituitary dysfunction, and midline abnormalities. We present the case of a 37-year-old female patient with De Morsier syndrome, who seeks medical attention due to infertility. She presents with hypopituitarism, characterized by growth hormone deficiency and hypogonadotropic hypogonadism, diagnosed at the age of 11 in the context of short stature and delayed puberty. The patient also exhibits complications associated with these deficits, such as infertility, metabolic syndrome, and skeletal compromise. Early diagnosis and treatment can prevent morbidity and mortality associated with this syndrome, but unfortunately, infertility remains unaffected. Nevertheless, achieving pregnancy is possible through ovulation induction.

Keywords : Septo-optic displasia; Hypopituitarism.

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