Introduction: Growth hormone deficiency (GHD) associated with a congenital malformation of the hypothalamic-pituitary axis is rare. It can be isolated or part of a combined pituitary deficiency. The purpose of our work is to describe the clinical picture in which between GH deficiency in children.
Materials and methods: This is a retrospective study of 18 cases among 192 patients consulting for growth retardation, conducted in the Endocrinology Diabetology Department of the Mohammed VI university hospital center of Oujda in Morocco.
Results: Mean chronological age at the time of diagnosis was 12.07±6.97 years, sex ratio (M/W): 2.6. Birth weight was low in 11.1% of cases, parental consanguinity in 22.2%. The reason for consultation was a growth retardation in all cases. The clinical examination objectified a severe growth retardation in 44.4% with a mean of 4.2 SD, the mean weight was 2.8±1.33 SD. A dysmorphic syndrome was present in 77.8% of our patients. A micropenis in 38.4% of boys. A pubertal delay was noted in 22.2% and diabetes insipidus in 2 patients. Biologically, an isolated deficit of GH was found in 38.8% and an hypopituitarism in 61.11%. The hypothalamic-pituitary MRI showed a pituitary stalk interruption with ectopic post-hypophysis in 55.5% of the cases, anterior pituitary atrophy in 33.3%, an empty sella turcica in 11.1%. The substitution of the corticotropic axis concerned 50% of the cases, and the thyreotropic axis 61.11%. The treatment by recombinant growth hormone concerned 88.9% with an initial dose of 0,035 mg/kg/day and the average statural gain was 0.82±0.24 SD during the first year of treatment.
Discussion and conclusion: Neuroimaging has become a major diagnostic tool, which suggests that such investigation might precede hormonal investigation to confirm GHD1. The hormone abnormalities may evolve with time, necessitating frequent evaluation. The risk of progression from isolated GHD to combined PHD in children is highest displayed by children with abnormalities in the Hypothalamo-Pituitary region2.
References: 1. Pierre C et al. Growth Hormone & IGF Research 2001, 11, 137165; doi:10.1054/ghir.2001.0203
2. Manuela Cerbone, Mehul T. Dattani; Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency; doi:10.1016/j.ghir.2017.10.005
18 - 21 May 2019
European Society of Endocrinology