Reduced Bone Mineral Density and Increased Bone Metabolism Rate in Young Adult Patients with 21-Hydroxylase Deficiency

Sciannamblo, Mariateresa; Russo, Gianni; Cuccato, Debora; Chiumello, G; Mora, Stefano

doi:10.1210/jc.2005-2823

Cited by 78 publications

(86 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Osteoporosis risk is increased in CAH patients in adulthood with increasing age when compared to the normal population (6)(7)(8)(9). Therefore, bone health of these patients should be evaluated starting from childhood.…”

Section: Discussionmentioning

confidence: 99%

“…Chronic glucocorticoid use has unfavorable effects on bone health through suppression of osteoblastic activity, decreased intestinal calcium absorption, secondary hyperparathyroidism, increased osteoclastic activity, and oversuppression of androgens (4,5). It is known that osteoporosis risk is higher in adult patients with CAH compared to the normal population (6)(7)(8)(9). However, in younger CAH patients there are contradictory results in published studies and case reports that reported that BMD values were not changed or decreased (10)(11)(12)(13)(14)(15)(16)(17)(18).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia

Demirel¹,

Kara²,

Tepe³

et al. 2014

Turk J Med Sci

View full text Add to dashboard Cite

To determine the prevalence of and risk factors for decreased bone mineral density (BMD) and vitamin D deficiency in children and adolescents with congenital adrenal hyperplasia (CAH). Materials and methods:This study was conducted on 30 girls and 22 boys with CAH (age range = 5-20 years) with median age of 12.0 years. BMD values of lumbar vertebras (L1-L4), which were determined by dual-energy X-ray absorptiometry, were used to calculate z-scores according to chronological age. A serum 25-hydroxyvitamin D level of <15 ng/mL was considered as indicative of vitamin D deficiency.Results: Mean vitamin D level was 14.8 ng/mL in the whole group. Twenty-seven (51.9%) children had vitamin D deficiency and it was more prevalent during pubertal ages. Vitamin D levels were found to be significantly lower in pubertal females. BMD z-score was below -1 standard deviation in 40.1% of cases with significantly higher mean age and lower vitamin D levels. Conclusion:Decreased BMD z-score and vitamin D deficiency were common in these children with CAH. Vitamin D levels were significantly lower in girls and pubertal children. Decreased BMD z-score was related to older age and lower levels of vitamin D. Periodical controls of vitamin D status and vitamin D supplementation were recommended in these cases, whenever required.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia

Demirel¹,

Kara²,

Tepe³

et al. 2014

Turk J Med Sci

View full text Add to dashboard Cite

show abstract

“…Some studies reported reduced BMD in all PAI patients (2,3), some only in postmenopausal women (4,5) or only in men (6,7), whereas other studies found no significant differences in BMD in either gender (8,9,10). In CAH patients some studies reported no significant differences in BMD between patients with CAH and controls (10,11,12,13,14,15,16), whereas others found reduced BMD in all or some subpopulations of CAH patients (17,18,19,20,21,22,23,24). Until now all studies in this area have had a crosssectional design.…”

Section: Introductionmentioning

confidence: 98%

Reduction in daily hydrocortisone dose improves bone health in primary adrenal insufficiency

Schulz

Frey

Cooper

et al. 2016

European Journal of Endocrinology

View full text Add to dashboard Cite

Objective: Individuals with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) receive life-long glucocorticoid (GC) replacement therapy. Current daily GC doses are still higher than the reported adrenal cortisol production rate. This GC excess could result in long-term morbidities such as osteoporosis. No prospective trials have investigated the long-term effect of GC dose changes in PAI and CAH patients. Methods: This is a prospective and longitudinal study including 57 subjects with PAI (42 women) and 33 with CAH (21 women). Bone mineral density (BMD) was measured by dual energy X-ray absorptiometry at baseline and after 2 years. Subjects were divided into three groups (similar baseline characteristics) depending on changes in daily hydrocortisone equivalent dose (group 1: unchanged 25.2G8.2 mg (meanGS.D., nZ50); group 2: increased 18.7G10.3 to 25.9G12.0 mg (nZ13); group 3: decreased 30.8G8.5 to 21.4G7.2 mg (nZ27)). Results: Subjects in group 1 showed normal lumbar and femoral Z-scores which were unchanged over time. Group 2 subjects showed a significant decrease in femoral neck Z-scores over time (K0.15G1.1 to K0.37G1.0 (P!0.05)), whereas group 3 subjects showed a significant increase in lumbar spine and hip Z-scores (L1-L4: K0.93G1.2 to -0.65G1.5 (P!0.05); total hip: K0.40G1.0 to K0.28G1.0 (P!0.05)). No changes in BMI over time were seen within any group. Reduction in GC dose did not increase the risk of adrenal crisis. Conclusion: This study demonstrates for the first time that cautious reduction in hydrocortisone equivalent doses leads to increases in BMD, whereas dose increments reduced BMD. These data emphasize the need for the lowest possible GC replacement dose in AI patients to maintain health and avoid long-term adverse effects.

show abstract

“…In pregnancies in which the offspring are at high risk for classical 21-OHD, pre-natal treatment with dexamethasone has been reported to be effective in preventing the birth of female babies with ambiguous genitalia [55][56][57]. Although glucocorticoid treatment (sometimes combined with fludrocortisone) continues to be the mainstay of conventional treatment of CAH and has been very helpful and lifesaving in that capacity, its use, even with recent refinements, continues to be plagued with issues regarding over-and under-treatment, growth inhibition, hypertension, obesity, low bone density, testicular adrenal rest tumors, and diabetes [58][59][60]. Our group has been focusing on insulin sensitizing interventions to reduce IR, which is a consistent feature of CAH, as it is with PCOS [61][62][63][64][65].…”

Section: Discussionmentioning

confidence: 99%

Effect of Vitamin D in a Patient With Classical Adrenal Hyperplasia due to 11-Hydroxylase Deficiency

Thomas

2013

J Med Cases

View full text Add to dashboard Cite

Both classical and non-classical CAH, like PCOS, are characterized by insulin resistance (IR) and are also ameliorated by measures which reduce IR. Vitamin D supplementation reduces IR and ameliorates PCOS in Vitamin D deficient/insufficient (VDDI) patientsraising the question: would Vitamin D replacement also ameliorate CAH? Our patient is a 47 year old man with Type 2 diabetes (Type 2 DM) and hypertension hospitalized for cellulitis, abscess, osteomyelitis, and gangrene of the left foot. He was not taking any known insulin sensitizers, and denied any history of acne or hyperpigmentation. The patient has no progeny and never had intercourse due to issues concerning his phallus size. He had hypospadias and micropenis at birth. The former was surgically corrected in childhood. His BMI = 36.45 kg/m 2 with a central fat distribution. On physical examination there was no acanthosis nigricans or hyperpigmentation. He had a stage IVa Hamilton male pattern alopecia that started during his early 20s. He had micropenis (or clitoromegaly), measuring 1.5 -2cm when flaccid; scrotum (or scrotalized labia majora) was normal in size. Testes is measured 3.4 cm in their long diameter and were firm. On 12-4-2012 his serum 11-deoxycortisol by liquid chromatography tandem mass spectrometry (LC MS/MS) was 2024 ng/dL ( ≤ 76) while his serum 25-OH-vitamin D by LC MS/ MS was 12 ng/mL( ≥ 30), and his 1,25 (OH)2-Vitamin D3 by LC MS/MS was ≤ 8 pg/mL (18 -72). Supplementation was begun with ergocalciferol 50,000 units orally weekly. Nine days later his serum 11-deoxycortisol fell to 425 ng/dL, while serum 25-OH-Vitamin D rose to 23 ng/mL, and serum 1,25-(OH)2-Vitamin D3 remained ≤8 pg/mL. Seventeen days later his serum 11-deoxycortisol was 194 ng/dL, while his serum 25-OH-Vitamin D was 27 ng/mL, and his 1,25-(OH)2-vitamin D3 remained ≤ 8 pg/mL. 28 days after starting supplementation with ergocalciferol the 11-deoxycortisol was < 20ng/dL. The laboratory lost the corresponding sample for Vitamin D metabolites. His lymphocyte karyotype was XY. He refused any biopsies, which might have disclosed mosaicism.Vitamin D might be a means of treating classical 11-hydroxylasedeficiency in patients with a VDDI co-morbidity and suggest that it may work by reducing IR.

show abstract

Reduced Bone Mineral Density and Increased Bone Metabolism Rate in Young Adult Patients with 21-Hydroxylase Deficiency

Abstract: Young adult patients with the classical form of CAH have decreased bone density values, compared with healthy controls. This may put them at risk of developing osteoporosis early in life.

Cited by 78 publications

References 28 publications

Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia

Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia

Reduction in daily hydrocortisone dose improves bone health in primary adrenal insufficiency

Effect of Vitamin D in a Patient With Classical Adrenal Hyperplasia due to 11-Hydroxylase Deficiency

Contact Info

Product

Resources

About