Congenital hypopituitarism: clinical, molecular and neuroradiological correlates

Abstract

Our data suggest that individuals presenting with ONH are at high risk for neuroradiologic and endocrine abnormalities. The neuroradiologic features are predictive not only of the presence, but also of the type, of hypopituitarism. The association of midline abnormalities with hypopituitarism in this cohort suggests a common developmental origin for these features, the aetiology of which remains unidentified in the majority of cases.

Posterior pituitary (PP) evaluation in patients with anterior pituitary defect associated with ectopic PP and septo-optic dysplasia

“…Our data cannot be compared with those described in the literature (4,23,35) as the frequency of CDI in SOD has been reported in as high as 6-38% of patients with SOD (Table 3). In particular, among previously described patients, 38% of 24 patients with SOD showed CDI, although a water deprivation test was performed in only 12 of the 24 subjects (23).…”

“…All patients were being treated with recombinant human GH at conventional dosages and subjects with MPHD were receiving conventional therapy for pituitary defects with good adherence as revealed by normal serum concentration of FT 4 and cortisol: L-T 4 75-200 mg/day, hydrocortisone 15-20 mg/day in two to three separate doses, testosterone enanthate 150-250 mg i.m. every 2 or 3 weeks for male subjects, and ethinyl estradiol or transdermal 17b-estradiol patches with medroxyprogesterone acetate for female subjects.…”

“…Specifically, septo-optic dysplasia (SOD) has been reported from its earliest descriptions as a condition associated with disorders of both anterior and PP function (4,(21)(22)(23). Moreover, several patients with SOD have a combination of midline defects and structural HP abnormalities such as anterior pituitary hypoplasia, pituitary stalk hypoplasia/agenesis with or without EPP (4) in the presence or absence of PP dysfunction; however, the diagnosis of these patients' various hypothalamic-PP disorders in the studies was based on standard procedures only. The etiology of SOD remains puzzling although the transcription factor homeobox gene expressed in embryonic stem cell (HESX1) might be involved (24).…”

“…Controversies exist, however, regarding neurohypophyseal function in subjects with ectopic posterior pituitary (EPP), the most common condition associated with congenital anterior pituitary deficiencies (1)(2)(3)(4)(5). Several studies have shown abnormal PP function, ranging from reduced vasopressin release after osmotic challenge, hypodipsia, or polydipsia (6) to persistent nocturnal enuresis or symptomatic CDI, in both familial (7) and sporadic cases of hypopituitarism associated with either isolated GH deficiency (IGHD) or multiple pituitary hormone deficiencies (MPHD) (6,8,9).…”

Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency

“…Causes of GHD include congenital lack of somatotrophs, due to pituitary aplasia or hypoplasia, or loss/destruction of somatotrophs resulting from hypothalamic-pituitary trauma, tumor, surgery, or radiation. Children with hypopituitarism, with multiple pituitary hormone deficiencies (MPHD), have generally been found to have structural hypothalamic/pituitary abnormalities evident on magnetic resonance imaging (MRI) (1,2,3) or identifiable genetic causes (3,4,5,6,7). However, many childhood cases of GHD are still diagnosed as idiopathic, where the true cause remains unknown, especially if the diagnostic workup does not extend beyond functional testing of GH secretion.…”