Clinical, biochemical and neuroradiological characterization of a cohort of patients with septo-optic dysplasia and multiple pituitary hormone deficiencies

Manuela Cerbone; Maria Guemes; Mehul Dattani

doi:10.1530/endoabs.33.OC5.2

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate the clinical, neuroradiological and endocrine features of patients with SOD and multiple pituitary hormone deficiencies (MPHD).

Design: Retrospective data were collected from 76 patients with SOD and 26 with MPHD, followed at a single centre. SOD patients were divided into two groups: i) with pituitary hormone deficiencies (SOD+, n=64) and ii) with normal pituitary function (SOD−, n=12).

Results: Mean age of diagnosis was similar in all three groups (Table 1).

Endocrinology: Onset of first pituitary hormone deficiency was similar in both groups. The most prevalent deficiency in SOD+ was GH deficiency, whilst TSH deficiency was the most prevalent deficiency in MPHD. Of patients with ACTH deficiency, all MPHD patients achieved adrenarche, whereas only 66.7% of SOD+ had adrenarche. Undervirilised external genitalia at birth were more frequent in MPHD patients, whereas spontaneous puberty and diabetes insipidus (DI) were more frequent in the SOD+ cohort. In three SOD+ patients, DI evolved after the age of 7.3 years.

Associated clinical features: Neurodevelopmental delay, microcephaly, hypoacusis, autism and sleep disturbances were more prevalent in SOD patients.

Bilateral optic nerve hypoplasia was the most prevalent optic abnormality in SOD patients, although other eye abnormalities, e.g. coloboma and retinal dystrophy were also identified.

Neuroimaging: Anterior pituitary hypoplasia was the most common finding in all groups. Ectopic posterior pituitary was present in 35.9% of SOD+ and 65.4% of MPHD. Pituitary stalk abnormalities were more frequent in patients with hormone deficiencies,. Other brain abnormalities were more frequently identified in SOD patients.

Table 1 Clinical, biochemical and radiological features of patients with: i) septo-optic dysplasia (SOD) with pituitary hormone deficiencies (SOD+), ii) SOD with normal pituitary function (SOD−) and iii) multiple pituitary hormonal deficiencies (MPHD).
	SOD + (n=64)	S0D− (n=12)	MPHD (n=26)
Clinical details
Gender (M/F)	34/30	7/5	12/12
CA at SOD/MPHD diagnosis (years)	2.1±0.4	3.7±1.5	2.2±0.7
Endocrinology
CA at first pituitary deficiency diagnosis (years)	2.6±0.4	–	2.2±0.6
Undervirilised external genitalia (%)	29.7	33.3	65.4
Spontaneous puberty (%)	83.3 (n:6)	100 (n:1)	57.1 (n:7)
Dl (%)	18.75	–	11.58
CA at Dl diagnosis (years)	2.5±1.1	–	0.1±0.0
CA at GHD diagnosis (years)	3.4±0.4	–	3.1±0.6
CA at TSHD diagnosis (years)	1.9±0.4	–	3.1±0.9
CA at ACTHD diagnosis (years)	2.1±0.5	–	3.4±1.0
Associated clinical features
Hypoacusis (H)	9.4	33.3	3.9
Neurodevelopmental delay (%)	60.9	66.7	15.4
Autism (%)	32.8	8.3	7.7
Sleep disturbances (%)	40.6	16.7	15.4
Neuroimaging
Anterior pituitary hypoplasia (%)	78.1	75.0	80.8
Ectopic posterior pituitary (%)	35.9	–	65.4
Pituitary stalk abnormalities (%)	50	16.7	42.3
M, males; F, females; CA, chronological age; Dl, diabetes insipidus; GHD, GH deficiency; TSHD, TSH deficiency; ACTHD, ACTH deficiency.

Conclusions: Our data suggest striking differences between SOD+, SOD− and MPHD patients. Further understanding of the aetiology and the natural history of these conditions may aid in their clinical management.

Endocrine Abstracts

OC5.2