Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia

Waśniewska, Małgorzata; Morabito, L.; Baronio, Federico; Einaudi, Silvia; Salerno, Mariacarolina; Bizzarri, Carla; Russo, Gianni; Chiarito, Mariangela; Grandone, Anna; Guazzarotti, Laura; Spinuzza, Antonietta; Corica, Domenico; Ortolano, Rita; Balsamo, Antonio; Abrigo, Enrica; Ferroli, Barbara Baldini; Alibrandi, Angela; Capalbo, Donatella; Aversa, Tommaso; Faienza, Maria Felicia

doi:10.1159/000509548

Cited by 15 publications

(18 citation statements)

References 35 publications

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“…In contrast, in untreated NCCAH patients, reported final heights are within the normal range in most studies (6,(50)(51)(52), suggesting that the elevated androgens in these patients do not lead to significant growth reduction. However, one study by New et al (53) reported a final height below the target height in untreated NCCAH patients.…”

Section: Growthmentioning

confidence: 93%

Section: Growthmentioning

confidence: 99%

“…There is no clear evidence that final height is significantly decreased in NCCAH patients receiving glucocorticoid treatment during childhood (47,51,66). Wasniewska et al (51) reported no significant difference in final height between treated and untreated patients. In contrast, Eyal et al (52) reported reduced final height in NCCAH patients after receiving hydrocortisone compared to untreated patients.…”

Section: Growthmentioning

confidence: 99%

“…There is no clear evidence that final height is significantly decreased in NCCAH patients receiving glucocorticoid treatment during childhood ( 47 , 51 , 66 ). Wasniewska et al.…”

Section: Growthmentioning

confidence: 99%

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Challenges in treatment of patients with non-classic congenital adrenal hyperplasia

Adriaansen¹,

Schröder²,

Span

et al. 2022

Front. Endocrinol.

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Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency (21OHD) or 11β-hydroxylase deficiency (11OHD) are congenital conditions with affected adrenal steroidogenesis. Patients with classic 21OHD and 11OHD have a (nearly) complete enzyme deficiency resulting in impaired cortisol synthesis. Elevated precursor steroids are shunted into the unaffected adrenal androgen synthesis pathway leading to elevated adrenal androgen concentrations in these patients. Classic patients are treated with glucocorticoid substitution to compensate for the low cortisol levels and to decrease elevated adrenal androgens levels via negative feedback on the pituitary gland. On the contrary, non-classic CAH (NCCAH) patients have more residual enzymatic activity and do generally not suffer from clinically relevant glucocorticoid deficiency. However, these patients may develop symptoms due to elevated adrenal androgen levels, which are most often less elevated compared to classic patients. Although glucocorticoid treatment can lower adrenal androgen production, the supraphysiological dosages also may have a negative impact on the cardiovascular system and bone health. Therefore, the benefit of glucocorticoid treatment is questionable. An individualized treatment plan is desirable as patients can present with various symptoms or may be asymptomatic. In this review, we discuss the advantages and disadvantages of different treatment options used in patients with NCCAH due to 21OHD and 11OHD.

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Section: Growthmentioning

confidence: 93%

Section: Growthmentioning

confidence: 99%

Section: Growthmentioning

confidence: 99%

“…There is no clear evidence that final height is significantly decreased in NCCAH patients receiving glucocorticoid treatment during childhood ( 47 , 51 , 66 ). Wasniewska et al.…”

Section: Growthmentioning

confidence: 99%

See 2 more Smart Citations

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia

Adriaansen¹,

Schröder²,

Span

et al. 2022

Front. Endocrinol.

View full text Add to dashboard Cite

show abstract

“…One recent European multicenter study looked retrospectively at a group of 192 NC-CAH patients mostly treated with glucocorticoids who achieved adult heights only modestly below the normal range. However, the smaller untreated group (11% of the total) achieved normal and slightly greater adult heights than the treated group ( p = 0.053) [14]. While it is likely that the untreated group had a milder presentation as they were significantly older at diagnosis, it is clear that withholding treatment of NC-CAH does not inevitably lead to rapidly advancing bone age and short stature.…”

Section: Premature Adrenarchementioning

confidence: 99%

For Premature Thelarche and Premature Adrenarche, the Case for Waiting before Testing

Kaplowitz¹

2020

Horm Res Paediatr

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Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Chiarito,

Lattanzio,

D’Ascanio

et al. 2024

Endocrine

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Purpose To investigate the incidence of nephrolithiasis in a cohort of children with congenital adrenal hyperplasia (CAH), and to study if there is an association with the metabolic control of the disease. Methods This study was designed as a multicenter 1 year-prospective study involving 52 subjects (35 males) with confirmed molecular diagnosis of CAH due to 21-hydroxylase deficiency (21-OHD). Each patient was evaluated at three different time-points: T0, T1 (+6 months of follow-up), T2 (+12 months of follow up). At each follow up visit, auxological data were collected, and adrenocorticotrophic hormone (ACTH), 17-hydroxyprogesterone (17-OHP), Δ4-androstenedione, dehydroepiandrosterone sulfate (DHEAS) serum levels, and urinary excretion of creatinine, calcium, oxalate and citrate were assayed. Moreover, a renal ultrasound was performed. Results The incidence of nephrolithiasis, assessed by ultrasound was 17.3% at T0, 13.5% at T1 and 11.5% at T2. At T0, one subject showed nephrocalcinosis. In the study population, a statistically significant difference was found for 17-OHP [T0: 11.1 (3.0–25.1) ng/mL; T1: 7.1 (1.8–19.9) ng/mL; T2: 5.9 (2.0–20.0) ng/mL, p < 0.005], and Δ4-androstenedione [T0: 0.9 (0.3–2.5) ng/mL; T1: 0.3 (0.3–1.1) ng/mL; T2: 0.5 (0.3–1.5) ng/mL, p < 0.005] which both decreased over the follow up time. No statistically significant difference among metabolic markers was found in the group of the subjects with nephrolithiasis, even if 17-OHP, DHEAS and Δ4-androstenedione levels showed a tendency towards a reduction from T0 to T2. Principal component analysis (PCA) was performed to study possible hidden patterns of associations/correlations between variables, and to assess the trend of them during the time. PCA revealed a decrease in the amount of the variables 17-OHP, Δ4-androstenedione, and ACTH that occurred during follow-up, which was also observed in subjects showing nephrolithiasis. Conclusions our data demonstrated that children affected with 21-OHD can be at risk of developing nephrolithiasis. Additional studies are needed to clarify the pathogenesis and other possible risk factors for this condition, and to establish if regular screening of kidney ultrasound in these patients can be indicated.

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Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia

Cited by 15 publications

References 35 publications

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia

For Premature Thelarche and Premature Adrenarche, the Case for Waiting before Testing

Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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