Pegvisomant Treatment in a 4-Year-Old Girl with Neurofibromatosis Type 1

Main, Katharina M.; Sehested, Astrid; Feldt‐Rasmussen, Ulla

doi:10.1159/000089486

Cited by 17 publications

(13 citation statements)

References 39 publications

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“…It further confirms the limited pediatric experience (6 patients reported in the literature) in which pegvisomant has shown encouraging results [14,15,16,20]. …”

Section: Discussionsupporting

confidence: 82%

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Eight-Year Follow-Up of a Child with a GH/Prolactin-Secreting Adenoma: Efficacy of Pegvisomant Therapy

et al. 2010

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A 3.4-year-old girl was admitted to the Pediatric Department because of tall stature (116.0 cm, +5.1 SDS) and increased height velocity (16.3 cm/year, +6.1 SDS). Basal hormonal evaluation revealed elevated insulin-like growth factor I (IGF-I) levels (938 ng/ml, nv 40–190), prolactin (PRL) (98.0 ng/ml, nv 1.7–24.0) and mean growth hormone (GH) nocturnal concentration (147 ng/ml). Basal adrenal, gonadal and thyroid functions were normal. Hand-wrist bone age was 3.6 years. Magnetic resonance imaging revealed a macroadenoma with moderate suprasellar invasion. The adenoma was surgically removed and histological characterization confirmed the diagnosis of GH/PRL-secreting adenoma. The patient was admitted to our Endocrine Unit when 7.9 years old, because of the persistence of elevated GH, IGF-I and PRL levels, although there was a slight height velocity reduction and absence of tumor recurrence. Treatment with cabergoline was initiated, but only PRL levels normalized. Afterwards, octreotide long-acting release (LAR) was added without reaching the normalization of GH and IGF-I levels. Thus, treatment with octreotide LAR was discontinued and pegvisomant was added to cabergoline, leading to the normalization of IGF-I levels and height velocity without side effects. Other anterior pituitary functions were always normal. To conclude, treatment of pituitary gigantism with pegvisomant was effective and well tolerated in a young giant unresponsive to combined cabergoline and octreotide treatment.

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“…It further confirms the limited pediatric experience (6 patients reported in the literature) in which pegvisomant has shown encouraging results [14,15,16,20]. …”

Section: Discussionsupporting

confidence: 82%

“…Normal doses are between 10 and 40 mg s.c. per day. Nevertheless, current experience in pediatric patients is still limited, being reported in only 6 case reports [14,15,16,20,21]. …”

Section: Introductionmentioning

confidence: 99%

Eight-Year Follow-Up of a Child with a GH/Prolactin-Secreting Adenoma: Efficacy of Pegvisomant Therapy

et al. 2010

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“…An affected girl was described by Duchowny et al [19] in 1984. From 1990, an additional 8 cases of concomitant OPG and NF-1 associated with biochemically confirmed GH excess have been reported in the literature [20,21,22,23,24,25,26]. Five cases were female (62.5%), with a mean age of 3.8 years (range 1.3-4.6) at presentation of GH excess.…”

Section: Discussionmentioning

confidence: 99%

Reversible Growth Hormone Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma

Bruzzi

Sani

Albanese³

2015

Horm Res Paediatr

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Background: A total of 12 children with neurofibromatosis type 1 (NF-1) with optic pathway glioma (OPG) and growth hormone (GH) excess are reported to date, but no data exist on the long-term outcome. We describe 2 girls with NF-1 with OPG and GH excess treated with somatostatin analogue (SSa) who maintained a normal GH axis after stopping SSa therapy. Methods: The diagnosis ofGH excess was established from auxological data, persistently high levels of insulin-like growth factor 1 (IGF-1) and a lack of GH suppression during an oral glucose tolerance test. Results: Both patients were started on SSa treatment. During treatment, growth deceleration and normal IGF-1 levels were documented. The first case stopped treatment following the development of SSa side effects. The second case interrupted SSa when, closed to her final height, a normal IGF-1 level was documented. While off treatment, both cases maintained normal IGF-1 levels and appropriate growth velocity for their age and development, with normal GH secretion on biochemical testing. Both cases received treatment for central precocious puberty. Conclusion: GH excess in NF-1 children with OPG can be reversed and only short-term SSa therapy may be required. The aetiology remains undetermined, but the course suggests a hypothalamic dysfunction.

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“…Josefson et al [23] suggest medical treatment of GH excess by somatostatin analogs or GHR antagonists to reduce tumor growth and the long-term detrimental systemic effects related to uncontrolled GH excess (gigantism-related skeletal problems, hypertension, glucose intolerance, and cardiomegaly). Scarce data exist on the longitudinal course of patients treated with somatostatin analogs or GHR antagonists [20,22]. Furthermore, NF1 patients with evidence of GH excess without OPG on imaging have never been reported, but it is likely that this condition can occur similarly to cases of CPP in NF1 children without evidence of OPG (see specific section).…”

Section: Gh Hypersecretionmentioning

confidence: 99%

Endocrine Implications of Neurofibromatosis 1 in Childhood

Bizzarri

Bottaro

2015

Horm Res Paediatr

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In 1882, von Recklinghausen described a group of patients with multiple tumors arising from the ‘endoneurium' of peripheral nerves, and called them ‘neurofibromas'. The term von Recklinghausen disease was used up to the end of the 20th century, when the gene of neurofibromatosis (NF1) was cloned on chromosome 17q11.2. The gene product is a cytoplasmic protein termed neurofibromin, regulating proliferation and maturation of both glial and neuronal progenitors during embryogenesis. Loss of neurofibromin function determines the hyperactivation of the proto-oncogene RAS, leading to an increased risk of tumor formation, predominantly affecting the skin, bone and the nervous system. NF1 is clinically and genetically distinct from neurofibromatosis type 2, characterized by bilateral vestibular schwannomas and other nervous system tumors. An increased incidence of central precocious puberty, diencephalic syndrome, GH deficiency and GH hypersecretion has been described in NF1 children. These conditions are commonly complications of optic pathway gliomas (OPG) involving the hypothalamic and sellar region. Nevertheless, these endocrine disorders have been observed also in children without evidence of OPG at magnetic resonance imaging. Clinical and laboratory follow-up is crucial in all children with NF1, particularly in those with an OPG, aiming at the early identification of signs suggestive of secondary endocrine alterations.

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Pegvisomant Treatment in a 4-Year-Old Girl with Neurofibromatosis Type 1

Cited by 17 publications

References 39 publications

Eight-Year Follow-Up of a Child with a GH/Prolactin-Secreting Adenoma: Efficacy of Pegvisomant Therapy

Eight-Year Follow-Up of a Child with a GH/Prolactin-Secreting Adenoma: Efficacy of Pegvisomant Therapy

Reversible Growth Hormone Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma

Endocrine Implications of Neurofibromatosis 1 in Childhood

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