Abstract
Isolated growth hormone deficiency (GHD) is defined by growth failure in combination with retarded bone age, low serum insulin-like growth factor-1, and insufficient GH peaks in two independent GH stimulation tests. Congenital GHD can present at any age and can be associated with significant malformations of the pituitary-hypothalamic region or the midline of the brain. In rare instances, genetic analysis reveals germline mutations of transcription factors involved in embryogenesis of the pituitary gland and the hypothalamus. Acquired GHD is caused by radiation, inflammation, or tumor growth. In contrast to organic GHD, idiopathic forms are more frequent and remain unexplained.There is a risk of progression from isolated GHD to combined pituitary hormone deficiency (> 5% for the total group), which is clearly increased in children with organic GHD, especially with significant malformation of the pituitary gland. Therefore, it is prudent to exclude additional pituitary hormone deficiencies in the follow-up of children with isolated GHD by clinical and radiological observations and endocrine baseline tests. In contrast to primary disorders of endocrine glands, secondary deficiency is frequently milder in its clinical manifestation. The pituitary hormone deficiencies can develop over time from mild insufficiency to severe deficiency. This review summarizes the current knowledge on diagnostics and therapy of additional pituitary hormone deficits occurring during rhGH treatment in children initially diagnosed with isolated GHD. Although risk factors are known, there are no absolute criteria enabling exclusion of children without any risk of progress to combined pituitary hormone deficiency. Lifelong monitoring of the endocrine function of the pituitary gland is recommended in humans with organic GHD. This paper is the essence of a workshop of pediatric endocrinologists who screened the literature for evidence with respect to evolving pituitary deficits in initially isolated GHD, their diagnosis and treatment.
Highlights
Childhood-onset growth hormone deficiency (GHD) is frequently occurring as an isolated hormone deficiency [1], but in a subgroup of these children, additional pituitary hormone deficiencies evolve over time
Diagnosis of ACTH deficiency Adrenocorticotropic hormone (ACTH) deficiency rarely occurs as an evolving pituitary deficit after the diagnosis of isolated GHD, and frequently, it is the last one becoming deficient
Death in children monitored during recombinant human GH (rhGH) treatment could be traced back to adrenal crisis related to ACTH deficiency in 12–25% of the cases [37]
Summary
Background Childhood-onset growth hormone deficiency (GHD) is frequently occurring as an isolated hormone deficiency [1], but in a subgroup of these children, additional pituitary hormone deficiencies evolve over time. Acquired GHD due to suprasellar tumor, cranial irradiation, or other causes of damage is accompanied or followed by deficits of other pituitary hormones, which frequently evolve in a characteristic pattern [4]. This is even true for children with the dominantly inherited isolated GHD type 2 with splice site mutations of GH1, who may develop additional pituitary hormone deficiencies in rare instances [6].
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