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Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?

Bozzola M, Gertosio C, Gnoli M, Baronio F, Pedrini E, Meazza C, Sangiorgi L - Ital J Pediatr (2015)

Bottom Line: When two or more osteochondroma are present, this condition represents a genetic disorder named hereditary multiple exostoses (HME).Growth hormone deficiency (GHD) has rarely been found in HME patients and a few data about growth therapy (GH) therapy effects in development/growth of solitary or multiple exostoses have been reported.Moreover, careful clinical and imaging follow-up of exostoses is mandatory.

View Article: PubMed Central - PubMed

Affiliation: Internal Medicine and Therapeutics Department, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Piazzale Golgi, 2, 27100, Pavia, Italy. mauro.bozzola@unipv.it.

ABSTRACT

Background: Osteochondroma generally occurs as a single lesion and it is not a heritable disease. When two or more osteochondroma are present, this condition represents a genetic disorder named hereditary multiple exostoses (HME). Growth hormone deficiency (GHD) has rarely been found in HME patients and a few data about growth therapy (GH) therapy effects in development/growth of solitary or multiple exostoses have been reported.

Case presentation: We describe the clinical features of 2 patients (one with osteochondroma and one with HME) evaluated before and after GH therapy. In the first patient, the single osteochondroma was noticed after the start of treatment; the other patient showed no evidence of significant increase in size or number of lesions related to GH therapy.

Conclusion: It is necessary to investigate GH secretion in patients with osteochondroma or HME and short stature because they could benefit from GH replacement therapy. Moreover, careful clinical and imaging follow-up of exostoses is mandatory.

No MeSH data available.


Related in: MedlinePlus

Patient 1 right leg X-rays after GH treatment
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Fig2: Patient 1 right leg X-rays after GH treatment

Mentions: Patient 1 was born by spontaneous vaginal delivery at the 38th week of an uncomplicated pregnancy and he was the fourth child of non-consanguineous parents. Birth length was 52 cm and birth weight 3,200 g. Perinatal period and neuropsychological development were normal. Scholastic performance and physical activity were normal, too. The patient was first referred to the Paediatric department at the age of 13 years and 9 months because of slight short stature (150 cm, -1.11 SDS). He showed a weight of 34 Kg (BMI 15.11 kg/m2, -2.0 SDS), a reduced growth rate (4 cm/year; -4.0 SDS), a delayed bone age (11 years) and gonadal volume of 3.5 ml (pre-pubertal stage). Genetic target was 181.75 cm (1.1 SDS). Hypothyroidism, chronic diseases, malabsorption including celiac disease and skeletal dwarfism were excluded. GH deficiency was diagnosed by two classic stimulation tests such as arginine infusion (GH peak: 6.8 ng/ml) and glucagon administration (GH peak: 6.1 ng/ml) and confirmed by low serum IGF-I values (132 ng/ml; -3.19 SDS). The MRI of the hypothalamic-pituitary region showed major abnormalities including reduced size of the pituitary gland and the thickening of the pituitary stalk, but normal appearance of neurohypophysis. A replacement therapy with GH (0.21 mg/Kg/week divided in 6 doses) showed a good response on linear growth: 6.58 cm (1.23 SDS) during the first year and 6.80 cm (5.08 SDS) during the second year of therapy. At the age of 15 years and 7 months, i.e. 1.5 years after the beginning of GH treatment, a cartilage-capped pedunculated solitary osteochondroma (12 mm) on the medial margin of the third proximal of the right tibial diaphysis in communication with two small solid palpable cartilaginous formations (15×18 mm and 8×5 mm) was observed (Fig. 1). The orthopaedist decided to immediately stop GH therapy because he was afraid of any influence on the exostoses. Since no macroscopic increase of the exostoses was observed after 4 months, the patient’s parents requested that the replacement therapy be started again. The patient grew 7.4 cm more and decided to stop GH therapy at the age of 18 years when he reached a height of 177.4 cm [0.41 SDS], although skeletal maturity was not achieved. After stopping the treatment, right leg X-rays showed an increased size of the pedunculated exostoses on the medial margin of the third proximal of the right tibial diaphysis (31×20.5 mm) (Fig. 2) compared to previous radiographs performed during the treatment (20.2×16.6 mm) in communication with other palpable cartilaginous formations (11.6×8.2 mm, 8.5×7 mm, 17×10 mm) of increased size compared to previous radiographs.Fig. 1


Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?

Bozzola M, Gertosio C, Gnoli M, Baronio F, Pedrini E, Meazza C, Sangiorgi L - Ital J Pediatr (2015)

Patient 1 right leg X-rays after GH treatment
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4524199&req=5

Fig2: Patient 1 right leg X-rays after GH treatment
Mentions: Patient 1 was born by spontaneous vaginal delivery at the 38th week of an uncomplicated pregnancy and he was the fourth child of non-consanguineous parents. Birth length was 52 cm and birth weight 3,200 g. Perinatal period and neuropsychological development were normal. Scholastic performance and physical activity were normal, too. The patient was first referred to the Paediatric department at the age of 13 years and 9 months because of slight short stature (150 cm, -1.11 SDS). He showed a weight of 34 Kg (BMI 15.11 kg/m2, -2.0 SDS), a reduced growth rate (4 cm/year; -4.0 SDS), a delayed bone age (11 years) and gonadal volume of 3.5 ml (pre-pubertal stage). Genetic target was 181.75 cm (1.1 SDS). Hypothyroidism, chronic diseases, malabsorption including celiac disease and skeletal dwarfism were excluded. GH deficiency was diagnosed by two classic stimulation tests such as arginine infusion (GH peak: 6.8 ng/ml) and glucagon administration (GH peak: 6.1 ng/ml) and confirmed by low serum IGF-I values (132 ng/ml; -3.19 SDS). The MRI of the hypothalamic-pituitary region showed major abnormalities including reduced size of the pituitary gland and the thickening of the pituitary stalk, but normal appearance of neurohypophysis. A replacement therapy with GH (0.21 mg/Kg/week divided in 6 doses) showed a good response on linear growth: 6.58 cm (1.23 SDS) during the first year and 6.80 cm (5.08 SDS) during the second year of therapy. At the age of 15 years and 7 months, i.e. 1.5 years after the beginning of GH treatment, a cartilage-capped pedunculated solitary osteochondroma (12 mm) on the medial margin of the third proximal of the right tibial diaphysis in communication with two small solid palpable cartilaginous formations (15×18 mm and 8×5 mm) was observed (Fig. 1). The orthopaedist decided to immediately stop GH therapy because he was afraid of any influence on the exostoses. Since no macroscopic increase of the exostoses was observed after 4 months, the patient’s parents requested that the replacement therapy be started again. The patient grew 7.4 cm more and decided to stop GH therapy at the age of 18 years when he reached a height of 177.4 cm [0.41 SDS], although skeletal maturity was not achieved. After stopping the treatment, right leg X-rays showed an increased size of the pedunculated exostoses on the medial margin of the third proximal of the right tibial diaphysis (31×20.5 mm) (Fig. 2) compared to previous radiographs performed during the treatment (20.2×16.6 mm) in communication with other palpable cartilaginous formations (11.6×8.2 mm, 8.5×7 mm, 17×10 mm) of increased size compared to previous radiographs.Fig. 1

Bottom Line: When two or more osteochondroma are present, this condition represents a genetic disorder named hereditary multiple exostoses (HME).Growth hormone deficiency (GHD) has rarely been found in HME patients and a few data about growth therapy (GH) therapy effects in development/growth of solitary or multiple exostoses have been reported.Moreover, careful clinical and imaging follow-up of exostoses is mandatory.

View Article: PubMed Central - PubMed

Affiliation: Internal Medicine and Therapeutics Department, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Piazzale Golgi, 2, 27100, Pavia, Italy. mauro.bozzola@unipv.it.

ABSTRACT

Background: Osteochondroma generally occurs as a single lesion and it is not a heritable disease. When two or more osteochondroma are present, this condition represents a genetic disorder named hereditary multiple exostoses (HME). Growth hormone deficiency (GHD) has rarely been found in HME patients and a few data about growth therapy (GH) therapy effects in development/growth of solitary or multiple exostoses have been reported.

Case presentation: We describe the clinical features of 2 patients (one with osteochondroma and one with HME) evaluated before and after GH therapy. In the first patient, the single osteochondroma was noticed after the start of treatment; the other patient showed no evidence of significant increase in size or number of lesions related to GH therapy.

Conclusion: It is necessary to investigate GH secretion in patients with osteochondroma or HME and short stature because they could benefit from GH replacement therapy. Moreover, careful clinical and imaging follow-up of exostoses is mandatory.

No MeSH data available.


Related in: MedlinePlus