Congenital Hypopituitarism: Clinical, Biochemical and Neuroradiological Relationships

Presentation Number: MON-0139
Date of Presentation: June 23rd, 2014

Mirta Beatriz Miras*1, Laura Castro2, Silvia Edith Martin2, Constanza Pelliza2, Adriana Rebeca Boyanovsky3, Graciela Testa2, Liliana Muñoz3, Gabriela Sobrero1 and Liliana Silvano3
1Hospital de Niños de la Santisima Trinidad, Cordoba, Argentina, 2Hospital de Niños de la Santísima Trinidad. Córdoba, Argentina, 3Hospital de Niños de la Santísima Trinidad. Córdoba, Córdoba, Argentina

Abstract

Background: Congenital Hypopituitarism (CHP) comprises a heterogeneous group of patients with isolated GH Deficiencies (IGHD) or combined with other pituitary hormone deficits (MPHD); their reported incidence is of 1/53.000 newborns. Clinical presentation is variable in severity and time. Early diagnosis can prevent damage to cognitive function or others resulting from associated deficiencies.

Objectives: To evaluate clinical signs and symptoms present at early life stages and analyze their relationships with hormone laboratory tests and diagnostic imaging in children with CHP.

Patients and methods: Forty nine patients were evaluated retrospectively: 27 females and 22 males that consulted before 3 years of age between 1999 and 2013.  

Results: The 49 patients with congenital GHD were divided into two categories: MPHD (33/49) and IGHD (16/49). The perinatal history revealed symptoms  such as hypoglycemia in 67% of MPHD. Of these, 59% had history of seizures; 53% of micropenis ; 39% of jaundice and 21% of cholestasis.  At diagnosis, patients with  multiple and isolated deficiencies showed -3.48 and -4.2 height SDS, respectively. All patients had GH deficiency,100% of  MPHD patients showed TSH deficiency, 51% ACTH deficiency, 36% Gonadotropins deficiency and 0.99% ADH deficiency. Brain MRI of patients with MPHD presented that 63% had hypoplastic adenohypophysis, absence of stalk and ectopic neurohypophysis versus 28.5% of patients with isolated somatotrophic deficiencies. Four patients showed dysgenesis of the corpus callosum and five optic nerve hypoplasia.

Conclusions: An early CHP diagnosis can be obtained with high accuracy based on a high clinical suspicion index.  

Characterization of GH- deficient patients by presence and type of hypothalamic- pituitary imaging abnormality provides valuable information for both physicians and families, regarding the likely severity of phenotype and potential for developing additional hormonal deficits.  Precise definition of different MRI phenotypes will become even more important as whole genome studies seek to identify additional causative genes for IGHD and MPHD.

Our results show that delayed diagnosis of an underlying endocrine disease predisposes these patients to higher morbimortality risk due to the combination of recurrent hypoglycemia, acute adrenal insufficiency, and secondary hypothyroidism.

 

Nothing to Disclose: MBM, LC, SEM, CP, ARB, GT, LM, GS, LS