Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

Nebesio, Todd D.; Eugster, Erica A.

doi:10.1155/2010/298937

Cited by 20 publications

(25 citation statements)

References 73 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In this study, a group of patients who initiated treatment early reached their TH. There is now some evidence that, with appropriate clinical management, children can achieve their genetic potential (2,13,21).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Cordeiro

Silva

Goulart

et al. 2013

Arq Bras Endocrinol Metab

View full text Add to dashboard Cite

Objective: The purpose of this study was to identify factors that might interfere with reaching the final height in patients with 21-hydroxylase deficiency (21-OHD). Subjects and methods: Thirty-one patients with classical 21-OHD who reached their FH in our Institution were evaluated in order to compare the Z score for final height (FHZ) with: (1) the target height, (2) the standard height for the population, and (3) the hydrocortisone treatment schedule. Results: The FHZ of -2.13 ± 1.11 had a significant negative correlation with the hydrocortisone doses used throughout the period of study. Patients who reached FH within the normal population range were those who received lower doses of hydrocortisone, as compared to those whose FH remained below -2 SDS. Conclusion: We conclude that careful treatment adjustments have a major influence on growth of children with CAH, and that the dose range for hydrocortisone replacement that does not lead to side effects is relatively narrow. The better height outcome was achieved in 21-OHD patients who received lower doses of hydrocortisone. Arq Bras Endocrinol Metab. 2013;57(2):126-31 Keywords Congenital adrenal hyperplasia; steroid 21-hydroxylase; corticosteroids; hydrocortisone; body height RESUMO Objetivo: O objetivo do estudo foi a identificação de fatores que podem interferir na aquisição de altura final de pacientes com a deficiência de 21-hidroxilase (21OHD). Sujeitos e métodos: A altura final (escore Z: FHZ) de 31 pacientes com a forma clássica da 21OHD, acompanhados em nossa instituição, foi comparada com: (1) a altura alvo, (2) o padrão de referência para a população, e (3) a dose de hidrocortisona durante o acompanhamento. Resultados: Observou-se correlação negativa significativa entre o FHZ de -2,13 ± 1,11 e as doses de hidrocortisona utilizadas durante o período de estudo. Os pacientes que atingiram altura final dentro do padrão de referência para a população usaram doses mais baixas de hidrocortisona quando comparados àqueles que permaneceram abaixo de -2 DP. Conclusão: O cuidado nos ajustes das doses durante o tratamento da 21OHD tem grande influência sobre o crescimento das crianças. A faixa de variação da dose de reposição da hidrocortisona que não causa efeitos colaterais é relativamente estreita. O melhor resultado estatural foi observado nos pacientes com 21OHD tratados com doses mais baixas de hidrocortisona. Arq Bras Endocrinol Metab. 2013;57(2):126-31 Descritores

show abstract

Section: Discussionmentioning

confidence: 99%

“…However, several series report that growth in these children is below expectation, as compared with both the reference population and the target height (TH) (2). The reasons for the inadequate growth and impairment of the final height (FH) are not completely understood.…”

Section: Introductionmentioning

confidence: 99%

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Cordeiro

Silva

Goulart

et al. 2013

Arq Bras Endocrinol Metab

View full text Add to dashboard Cite

show abstract

“…In general, most patients with CAH achieve a final adult height below their target height [15]. Therefore, the final adult height, expressed as a standard deviation score (SDS), was corrected for genetic potential (final adult height SDS minus mid-parental height SDS) in patients who reached their final height.…”

Section: Methodsmentioning

confidence: 99%

The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

et al. 2011

View full text Add to dashboard Cite

“…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

Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

Cited by 20 publications

References 73 publications

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism

The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

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

Contact Info

Product

Resources

About