Congenital Optic Nerve Hypoplasia With Hypothalamic-Pituitary Dysplasia

Endocrine disorders in septo-optic dysplasia (De Morsier syndrome) — evaluation and follow up of 18 patients

“…In addition, problems in the perinatal and neonatal periods were reported frequently in our survey as well as in other series of SOD patients [24,33]. Almost one third of the patients in Margalith's series [24,25] had required resuscitation after birth, four of our patients had needed mechanical ventilation after birth. Hypoglycaemia and severe jaundice possibly due to hormonal deficiencies occurred in a large proportion of the children as has been reported before [18].…”

“…Indeed, Hanna and LaFranchi [12] reported on a patient with SOD who had growth failure but normal hGH stimulation tests during the 1 st year of life but at the age of 23 months was found GH deficient while the growth rate had remained subnormal. Hypothalamic-pituitary dysfunctions were detected in almost all of the children tested [6,25,32,36,38]. A number of investigators have postulated that endocrine deficiencies in patients with SOD are of hypothalamic origin, i.e.…”

Infantile infection and diabetes insipidus in children with optic nerve hypoplasia

“…[2][3][4][5][6][7] These midline defects are believed to be caused by an insult during prosencephalic development (gestation week 13) which affects midline structures including the cerebral hemispheres, the hypothalamus, and the pituitary, and produces pituitary and hypothalamic abnormalities. [8][9][10][11] Ectopia or absence of the posterior pituitary bright spot is a very sensitive MRI indicator of anterior pituitary dysfunction, 5 12 and occurred in all three patients. This sign is also a marker for diabetes insipidus in patients with BONH.…”

A Patient with Septo-Optic Dysplasia Accompanying with Central Precocious Puberty

“…The patient also showed central precocious puberty in addition to GH and ATCH deficiency. In SOD, both gonadotropin deficiency and central precocious puberty have been reported [3,[6][7][8]. Central precocious puberty usually includes acceleration of the growth rate and GH deficiency usually shows growth failure.…”