Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia

• Published in: The Journal of pediatrics Vol. 123; no. 3; pp. 365 - 370
• Main Authors: Kaufman, Francine Ratner, Loro, Maria Luiza, Azen, Colleen, Wenz, Elizabeth, Gilsanz, Vicente
• Format: Journal Article Conference Proceeding
• Language: English
• Published: New York, NY Mosby, Inc 01.09.1993; Elsevier
• Subjects: absorcion de substancias nutritivas; absorption de substances nutritives; Adolescent; Adult; adulte; adultos; adults; ash content; Biological and medical sciences; bone density; Bone Density - physiology; bones; calcio; calcium; Calcium - deficiency; Calcium - metabolism; Carbohydrates (enzymatic deficiencies). Glycogenosis; Child; Child, Preschool; children; contenido de ceniza; deficiency; densidad; densite; density; Diet; endocrine diseases; enfant; enfermedades glandulas endocrinas; Errors of metabolism; Female; galactosemia; Galactosemias; Galactosemias - diagnostic imaging; Galactosemias - metabolism; Galactosemias - physiopathology; huesos; Humans; Hypogonadism; Hypogonadism - metabolism; Male; Medical sciences; Metabolic diseases; metabolic disorders; metabolism; ninos; nutrient intake; nutrient uptake; physiology; physiopathology; radiography; teneur en cendres; Tomography, X-Ray Computed; trastornos metabolicos; trouble du metabolisme; trouble endocrinien; Endocrinopathy; Human; Hypogonadotropic hypogonadism; Nervous system diseases; Calcium; Hypothalamic diseases; Pathogenesis; Diseases of the osteoarticular system; Metabolic diseases; Exploration; Bone disease; Relative density; Inorganic element; Enzymopathy; Genetic disease; Galactosemia; Osteoporosis; Absorption; Ovarian failure; Risk factor; Complication; Female; Carbohydrate; Bone
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/S0022-3476(05)81733-0

Forty children and adults with classic galactosemia had vertebral bone density determined by standard quantitative computed tomography at 3.4 to 44.2 years of age. Compared with age- and sex-matched control subjects, patients with galactosemia had diminished bone density ( p=<0.001). Prepubertal patients of both sexes had bone density determinations below those of the control group ( p=0.008); similar findings were seen in postpubertal patients as well (women, p=0.001; men, p=0.008). Women receiving replacement estrogen-progestin therapy for premature ovarian failure had abnormal bone density (136.3±17.3 mg/cm 3 vs 166.0±17.5 mg/cm 3 for control subjects; p=0.002); patients with evidence of ovarian insufficiency not receiving replacement sex steroids had even lower bone density (92.4±14.3 mg/cm 3 vs 160.2±20.2 mg/cm 3 for control subjects; p<0.001). Calcium intake for the entire galactosemia group was 540±344 mg/day. Calcium intake correlated positively with bone density in women given exogenous estrogen ( r=0.87; p=0.002) and in men ( r=0.74; p=0.009). Thus the diminished mineralization of bones appears to be another abnormality associated with galactosemia. The results of our study suggest that this is likely secondary to abnormal levels of sex steroids in female patients, low calcium intake, and perhaps an intrinsic defect in the normal galactosylation of the collagen matrix of bone caused by the enzyme defect. Strategies to improve bone formation should be considered to diminish morbidity in patients with this inborn error of metabolism.