Septo-optic dysplasia (de Morsier syndrome) with hypopituitarism and its multiple complications
A case report and literature review
DOI:
https://doi.org/10.29193/RMU.39.4.7Keywords:
SEPTO-OPTIC DISPLASIA, HYPOPITUITARISMAbstract
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.
References
Volpe P, Campobasso G, De Robertis V, Rembouskos G. Disorders of prosencephalic development. Prenat Diagn 2009; 29(4):340-54. doi: 10.1002/pd.2208.
Golnik K. Congenital anomalies and acquired abnormalities of the optic nerve. En: Shefner JM, ed. UpToDate. Waltham, MA: Wolters Kluwer, 2022.
Willnow S, Kiess W, Butenandt O, Dorr H, Enders A, Strasser-Vogel B, et al. Endocrine disorders in septo-optic dysplasia (De Morsier syndrome): evaluation and follow up of 18 patients. Eur J Pediatr 1996; 155(3):179-84. doi: 10.1007/BF01953934.
Webb E, Dattani M. Septo-optic dysplasia. Eur J Hum Genet 2010; 18(4):393-7. doi: 10.1038/ejhg.2009.125.
Musgrove J, Riley C. Septo-Optic Dysplasia: a case study. Neonatal Netw 2016; 35(1):13-8. doi: 10.1891/0730-0832.35.1.13.
Young J, Xu C, Papadakis G, Acierno J, Maione L, Hietamäki J, et al. Clinical management of congenital hypogonadotropic hypogonadism. Endocr Rev 2019; 40(2):669-710. doi: 10.1210/er.2018-00116.
Reyes Lobo A, Ocampo M. Septo-optic dysplasia a case presentation for revisiting this intriguing and uncommon condition. J Radiol Med Imaging 2021; 4(1):1044.
Arslanian S, Rothfus W, Foley TJr, Becker D. Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. Acta Endocrinol (Copenh) 1984; 107(2):282-8. doi: 10.1530/acta.0.1070282.
Cerbone M, Güemes M, Wade A, Improda N, Dattani M. Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders. EClinicalMedicine 2020; 19:100224. doi: 10.1016/j.eclinm.2019.11.017.
Bry-Gauillard H, Larrat-Ledoux F, Levaillant J, Massin N, Maione L, Beau I, et al. Anti-Müllerian hormone and ovarian morphology in women with isolated hypogonadotropic hypogonadism/Kallmann syndrome: effects of recombinant human FSH. J Clin Endocrinol Metab 2017; 102(4):1102-11. doi: 10.1210/jc.2016-3799.
Brescia A, Rieppi L, Aguirre R. Manual de procedimientos para el manejo sanitario reproducción asistida según Ley 19.167/2013. Montevideo, MSP, 2014.
Abdelaal A, Behery M, Abdelkawi A. Reproductive outcomes in women with hypogonadotrophic hypogonadism: a case series study. Middle East Fertil Soc J 2021; 26:11. doi: 10.1186/s43043-021-00055-6.
Burt E, Davies M, Yasmin E, Cameron-Pimblett A, Mavrelos D, Talaulikar V, et al. Reduced uterine volume after induction of puberty in women with hypogonadism. Clin Endocrinol (Oxf) 2019; 91(6):798-804. doi: 10.1111/cen.14092.
Homburg R, Eshel A, Armar N, Tucker M, Mason P, Adams J, et al. One hundred pregnancies after treatment with pulsatile luteinising hormone releasing hormone to induce ovulation. BMJ 1989; 298(6676):809-12. doi: 10.1136/bmj.298.6676.809.
Spiliotis B. Growth hormone insufficiency and its impact on ovarian function. Ann N Y Acad Sci 2003; 997:77-84. doi: 10.1196/annals.1290.009.
Vieira da Costa J, Pereira-Lima J, da Costa Oliveira M. Bone mineral density in early-onset hypogonadism and the effect of hormonal replacement. J Clin Densitom 2004; 7(3):334-40. doi: 10.1385/jcd:7:3:334.
Laitinen E, Hero M, Vaaralahti K, Tommiska J, Raivio T. Bone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism. Int J Androl 2012; 35(4):534-40. doi: 10.1111/j.1365-2605.2011.01237.x.
Laurent M, Antonio L, Sinnesael M, Dubois V, Gielen E, Classens F, et al. Androgens and estrogens in skeletal sexual dimorphism. Asian J Androl 2014; 16(2):213-22. doi: 10.4103/1008-682X.122356.
19. Callewaert F, Venken K, Boonen S, Vanderschueren D. Estrogen and the Skeleton - Rodents. En: Orwoll E, Bilezikian J, Vanderschueren D, eds. Osteoporosis in Men: the effects of gender on skeletal health. 2 ed. Cambridge, MA: Academic press, 2010:283–7.
Rosén T, Wilhelmsen L, Landin-Wilhelmsen K, Lappas G, Bengtsson B. Increased fracture frequency in adult patients with hypopituitarism and GH deficiency. Eur J Endocrinol 1997; 137(3):240-5. doi: 10.1530/eje.0.1370240.
Chanson P. The heart in growth hormone (GH) deficiency and the cardiovascular effects of GH. Ann Endocrinol (Paris) 2021; 82(3-4):210-3. doi: 10.1016/j.ando.2020.03.005.
Sonmez A, Haymana C, Bolu E, Aydogdu A, Tapan S, Serdar M, et al. Metabolic syndrome and the effect of testosterone treatment in young men with congenital hypogonadotropic hypogonadism. Eur J Endocrinol 2011; 164(5):759-64. doi: 10.1530/EJE-10-0951.
Demirci I, Haymana C, Candemir B, Meric C, Yuksel B, Eser M, et al. Triglyceride-glucose index levels in patients with congenital hypogonadotropic hypogonadism and the relationship with endothelial dysfunction and insulin resistance. Endokrynol Pol 2021; 72(3):232-7. doi: 10.5603/EP.a2021.0019.
He Y, Lu Y, Zhu Q, Wang Y, Lindheim S, Qi J, et al. Influence of metabolic syndrome on female fertility and in vitro fertilization outcomes in PCOS women. Am J Obstet Gynecol 2019; 221(2):138.e1-138.e12. doi: 10.1016/j.ajog.2019.03.011.
