Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report
Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report
Journal of Medical Case Reports 2008, 2:210
Published: August 2009
Published: August 2009
Introduction:
Growth retardation is one of the cardinal manifestations of glycogen storage disease type Ia. It is unclear which component of the growth hormone and/or insulin-like growth factor axis is primarily disrupted, and management of growth impairment in these patients remains controversial. Here we report the first case in the literature where glycogen storage disease type Ia is associated with pituitary hypoplasia and growth hormone deficiency.
Case presentation:
A 20-year-old woman with glycogen storage disease type Ia was admitted to our endocrinology department because of growth retardation. Basal and overnight growth hormone sampling at 2-hour intervals demonstrated low levels; however, provocative testing revealed a relatively normal growth hormone response. A hypoplastic anterior pituitary with preserved growth hormone response to provocative testing suggested the possibility of growth hormone neurosecretory dysfunction and/or primary pituitary involvement.
Conclusion:
Pituitary hypoplasia may result from growth hormone-releasing hormone deficiency, a condition generally known as growth hormone neurosecretory dysfunction. It is an abnormality with a spontaneous and pulsatile secretion pattern, characterized by short stature, growth retardation and normal serum growth hormone response to provocative testing. However, in the case described in this report, a normal although relatively low growth hormone response during insulin tolerance testing and pituitary hypoplasia suggested that primary pituitary involvement or growth hormone neurosecretory dysfunction may occur in glycogen storage disease type Ia. This is a potential cause of growth failure associated with a lower somatotroph mass, and may explain the variable responsiveness to growth hormone replacement therapy in people with glycogen storage disease.
Introduction
Growth retardation is one of the cardinal signs and/or complications of glycogen storage disease type Ia (GSDIa). However, the underlying mechanism, and therefore the management of growth impairment, in these patients remains controversial. Hyperlacticacidemia, recurrent hypoglycemia, growth hormone (GH) and/or insulin-like growth factor (IGF) deficiency, GH and/or IGF resistance, decreased insulin and increased cortisol secretions have all been suggested to explain growth retar-dation in GSDIa [1]. It is not clear, however, at which level the GH-IGF axis is mainly injured. Avoidance of hypoglycemia and hyperlacticacidemia and/or administration of diazoxide or GH replacement therapy have been reported to induce growth, but with variable responses in different patient groups with GSDIa [1-3].
References:
- Mundy HR, Hindmarsh PC, Matthews DR, Leonard JV, Lee PJ: The regulation of growth in glycogen storage disease type 1. Clin Endocrinol (Oxf) 2003, 58:332-339.
- Nuoffer JM, Mullis PE, Wiesmann UN: Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth. J Inherit Metab Dis 1997, 20:790-798.
- Noto RA, Vijayaraghavan V, Timoshin A, Sansobrino D: Improved growth with growth hormone therapy in a child with glycogen storage disease Ib. Acta Paediatr 2003, 92:977-979.
- Melis D, Parenti G, Della Casa R, Sibilio M, Romano A, Di Salle F, Elefante R, Mansi G, Santoro L, Perretti A, Paludetto R, Sequino L, Andria G: Brain damage in glycogen storage disease type I. J Pediatr 2004, 144:637-642.
- Kuemmerle N, Krieg RJ Jr, Latta K, Challa A, Hanna JD, Chan JC: Growth hormone and insulin-like growth factor in non-uremic acidosis and uremic acidosis. Kidney Int Suppl 1997, 58:S102-105.
- Spampinato MV, Castillo M: Congenital pathology of the pituitary gland and parasellar region. Top Magn Reson Imaging 2005, 16:269-276.
- Spiliotis BE, August GP, Hung W, Sonis W, Mendelson W, Bercu BB: Growth hormone neurosecretory dysfunction. A treatable cause of short stature. JAMA 1984, 251:2223-2230.
- Aimaretti G, Baffoni C, Bellone S, Di Vito L, Corneli G, Arvat E, Benso L, Camanni F, Ghigo E: Retesting young adults with childhoodonset growth hormone (GH) deficiency with GH-releasinghormone- plus-arginine test. J Clin Endocrinol Metab 2000, 85:3693-3699.
- Darzy KH, Pezzoli SS, Thorner MO, Shalet SM: Cranial irradiation and growth hormone neurosecretory dysfunction: a critical appraisal. J Clin Endocrinol Metab 2007, 92:1666-1672.
- Ghigo E, Aimaretti G, Corneli G: Diagnosis of adult GH deficiency. Growth Horm IGF Res 2008, 18:1-16.
