Patterns of growth from birth to maturity in infants and children with congenital adrenal hyperplasia

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S295-S304 ◽  
Author(s):  
George W. Clayton
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Growth Failure ◽  
Normal Growth ◽  
Growth Patterns ◽  
Height Velocity ◽  
Growth Spurt ◽  
First Year ◽  
Adrenal Hyperplasia ◽  
Pubertal Growth Spurt ◽  
First Year Of Life

Abstract Patterns of growth of 30 children with Congenital Adrenal Hyperplasia of the 21-hydroxylase type were studied from infancy to maturity. These children were compliant as to therapy. Intramuscular (I.M.) Cortisone (40mg/M2) given every three days resulted in growth failure after the first year of life. A marked increase in height velocity occurred when oral Cortisone (20-25mg/M2) was given at approximate] 3 years. Growth was relatively normal during childhood in both boys and girls but there was a marked increase in mean weight in both sexes. Pubertal growth spurt occurred normally in males but was delayed in females. Weight decreased in both sexes at puberty but not to normal. Better methods of monitoring this condition should result in therapeutic regimes which allow normal growth patterns as well as normal mature height.

scholarly journals Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose

2017 ◽  
Vol 89 (1) ◽  
pp. 7-12 ◽  
Author(s):  
Walter Bonfig ◽  
Friedhelm Roehl ◽  
Stefan Riedl ◽  
Jürgen Brämswig ◽  
Annette Richter-Unruh ◽  
...  
Keyword(s):  
Sodium Chloride ◽  
Congenital Adrenal Hyperplasia ◽  
Routine Care ◽  
Sodium Content ◽  
Adrenal Crisis ◽  
First Year ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
First Year Of Life ◽  
Oral Sodium

Introduction: Sodium chloride supplementation in salt-wasting congenital adrenal hyperplasia (CAH) is generally recommended in infants, but its implementation in routine care is very heterogeneous. Objective: To evaluate oral sodium chloride supplementation, growth, and hydrocortisone and fludrocortisone dose in infants with salt-wasting CAH due to 21-hydroxylase in 311 infants from the AQUAPE CAH database. Results: Of 358 patients with classic CAH born between 1999 and 2015, 311 patients had salt-wasting CAH (133 females, 178 males). Of these, 86 patients (27.7%) received oral sodium chloride supplementation in a mean dose of 0.9 ± 1.4 mmol/kg/day (excluding nutritional sodium content) during the first year of life. 225 patients (72.3%) were not treated with sodium chloride. The percentage of sodium chloride-supplemented patients rose from 15.2% in children born 1999–2004 to 37.5% in children born 2011–2015. Sodium chloride-supplemented and -unsupplemented infants did not significantly differ in hydrocortisone and fludrocortisone dose, target height-corrected height-SDS, and BMI-SDS during the first 2 years of life. Conclusion: In the AQUAPE CAH database, approximately one-third of infants with salt-wasting CAH receive sodium chloride supplementation. Sodium chloride supplementation is performed more frequently in recent years. However, salt supplementation had no influence on growth, daily fludrocortisone and hydrocortisone dose, and frequency of adrenal crisis.

Low Adrenomedullary Function Predicts Acute Illness in Infants with Classical Congenital Adrenal Hyperplasia

2021 ◽  
Author(s):  
Jonathan Weber ◽  
Veeraya K Tanawattanacharoen ◽  
Amy Seagroves ◽  
Mark C Liang ◽  
Christina M Koppin ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Acute Illness ◽  
First Year ◽  
Plasma Epinephrine ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Young Infants ◽  
Increased Risk ◽  
21 Hydroxylase Deficiency ◽  
First Year Of Life

Abstract Context Youth with classical congenital adrenal hyperplasia (CAH) exhibit abnormal adrenomedullary function with decreased epinephrine levels noted in newborns and young infants. Little is known about how this relates to morbidity during the first year of life. Objective To study plasma epinephrine levels in infants with classical CAH and examine the clinical significance of epinephrine deficiency in the first year of life. Design Prospective cohort study. Setting Study participants were recruited from a pediatric tertiary care center. Patients or Other Participants 36 infants with classical CAH due to 21-hydroxylase deficiency and 27 age-matched unaffected controls with congenital hypothyroidism. Main Outcome Measures Plasma epinephrine levels (N=27), CYP21A2 genotype (N=15), and incidence of acute illnesses from birth to 1 year of age (N=28). Results Epinephrine levels in CAH infants independently predicted illness incidence in the first year of life (β=-0.018, R=-0.45, P=0.02) and were negatively correlated with 17-hydroxyprogesterone at diagnosis (R=-0.51, P=0.007). Infants with salt-wasting CAH exhibited lower epinephrine levels as newborns than simple-virilizing infants (P=0.02). CAH patients had lower epinephrine as newborns than controls (P=0.007) and showed decreases in epinephrine from birth to 1 year of age (P=0.04). Null genotype was associated with lower newborn epinephrine and more illness in the first year of life, compared to less severe mutation categories. Conclusions Lower epinephrine levels are associated with increased risk of illness among CAH infants. While not currently part of clinical standard of care, measuring epinephrine levels and assessing genotype may help predict acute illness in the first year of life.

Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy

2018 ◽  
Vol 31 (9) ◽  
pp. 1019-1022
Author(s):  
Jack Sellick ◽  
Sarah Aldridge ◽  
Matthew Thomas ◽  
Tim Cheetham
Keyword(s):  
Standard Deviation ◽  
Congenital Adrenal Hyperplasia ◽  
Standard Deviation Score ◽  
Normal Growth ◽  
Height Velocity ◽  
Adrenal Hyperplasia ◽  
Growth Data ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Abstract Background The dose of hydrocortisone therapy required to maintain normal growth in infants with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is lower than in later childhood. This reflects the presence of excess non-aromatisable rather than aromatisable androgen but there has been relatively little focus on the role of mineralocorticoid therapy. Methods Growth data of infants with CAH due to 21-hydroxylase deficiency (2008–2016) were reviewed and information regarding hydrocortisone and fludrocortisone regimen was collected. Change in height standard deviation (SD) and height velocity standard deviation score (SDS) were analysed during the first year of life. Results Growth data from 13 children (8 M) were analysed. Height (length) declined from a median of −0.69 SD at 3 months to −1.23 SD at 12 months with a reduction in height velocity SDS from 0.02 between 3 and 6 months to −2.22 between 9 and 12 months (p=0.017) despite a hydrocortisone dose at the lower end of the range as recommended in consensus guidelines. The glucocorticoid activity of hydrocortisone and fludrocortisone was negatively associated with growth velocity (r=−0.55; p=0.049) although renin activity was not suppressed. Conclusions Infants with 21-hydroxylase deficiency can be managed with replacement hydrocortisone. The reasons for this paradigm are now understood although our data confirm that the glucocorticoid activity of fludrocortisone needs to be taken into consideration as well.

Management of Puberty for Optimal Auxological Results in β-Thalassaemia Major

2001 ◽  
Vol 14 (s2) ◽  
Author(s):  
Manuela Caruso-Nicoletti ◽  
V. De Sanctis ◽  
L. Cavallo ◽  
G. Raiola ◽  
L. Ruggiero ◽  
...  
Keyword(s):  
Short Stature ◽  
Final Height ◽  
Growth Failure ◽  
Normal Growth ◽  
Growth Spurt ◽  
Endocrine Disorders ◽  
Thalassaemia Major ◽  
Pubertal Growth Spurt ◽  
Pubertal Growth ◽  
Height Gain

AbstractShort stature is present in a significant percentage of patients affected by β-thalassaemia major. Growth failure of patients with thalassaemia is multifactorial. The most important contribution is attributed to the toxic effect desferrioxamine and to endocrine disorders, due to iron overload. The commonest endocrine complication is hypogonadism. The growth pat- tern of patients with thalassaemia is characterized by normal growth during childhood, a deceleration of growth velocity around age 9-10 years, and a reduced pubertal growth spurt. In addition, reduced growth of the trunk is often present. Short stature and short trunk are more evident at pubertal age. Hypogonadism is usually considered responsible for the pubertal growth failure, as well as the aggravation of body disproportion at pubertal age. However, data suggest that pubertal height gain and final height are reduced in both patients with spontaneous puberty and patients with induced puberty. It is concluded that several aspects of peripubertal growth in patients with thalassaemia remain to be clarified.

Specific clinical and hormonal features of the non-classical form of 21-hydroxilase deficiency in the children during the first year of life detected from the results of neonatal screening

2014 ◽  
Vol 60 (3) ◽  
pp. 23-29
Author(s):  
T A Ionova ◽  
A N Tyulpakov
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Molecular Genetic Analysis ◽  
Reproductive Age ◽  
First Year ◽  
Healthy Children ◽  
Adrenal Hyperplasia ◽  
Classical Form ◽  
First Year Of Life ◽  
Group 1

The non-classical form of 21-hydroxilase deficiency (21-OHD) has up to now been fairly well studied only in the patients of prepubertal and pubertal age as well as in the women of reproductive age. The advent of neonatal screening for congenital adrenal hyperplasia (CAD) made it possible to more frequently detect 21-OHD in the children during the first year of life. The domestic literature proposes no clinical and laboratory criteria for 21-OHD in the young children. The results of neonatal screening of 50 children presenting with elevated 17-hydroxyprogesterone (17-OHP) levels carried out in the period from 2011 to 2013 were used to form two groups of patients, one comprised of 20 children with verified 21-OHD (group 1), the other containing 30 "healthy" children showing the false-positive elevation of 21-OHD levels. All the patients underwent the comprehensive clinical and hormonal examination supplemented by the molecular-genetic analysis. The main criterion for the inclusion of children in group 1 was the presence of mutations in the CYP21 gene It was shown that determination of 21-OHD by tandem mass-spectrometry (TMS) including that in the framework of multisteroid analysis yields the most specific and accurate data in the children below one year of age; such analysis is indicated to all patients in whom the neonatal screening for congenital adrenal hyperplasia reveals the slightly elevated 17-OHP levels. The analysis for the group of patients with verified 21-OHD has demonstrated the absence of clinical and laboratory signs of adrenal insufficiency and/or hyperandrogenism in the children aged below 1 year.

Prepubertal urinary estrogen excretion and its relationship with pubertal timing

2010 ◽  
Vol 299 (6) ◽  
pp. E990-E997 ◽  
Author(s):  
Lijie Shi ◽  
Thomas Remer ◽  
Anette E. Buyken ◽  
Michaela F. Hartmann ◽  
Philipp Hoffmann ◽  
...  
Keyword(s):  
Pubertal Timing ◽  
Height Velocity ◽  
Breast Development ◽  
Growth Spurt ◽  
Age At Menarche ◽  
Healthy Children ◽  
Pubertal Growth Spurt ◽  
Peak Height Velocity ◽  
Pubertal Growth ◽  
Estrogen Production

Whether prepubertal estrogen production impacts on the timing of puberty is not clear. We aimed to investigate prepubertal 24-h estrogen excretion levels and their association with early and late pubertal markers. Daily urinary excretion rates of estrogens of 132 healthy children, who provided 24-h urine samples 1 and 2 yr before the start of the pubertal growth spurt [age at takeoff (ATO)], were quantified by stable isotope dilution/GC-MS. E-sum3 (estrone + estradiol + estriol) was used as a marker for potentially bioactive estrogen metabolites and E-sum5 (E-sum3 + 16-epiestriol + 16-ketoestradiol) for total estrogen production. Pubertal outcomes were ATO, age at peak height velocity (APHV), duration of pubertal growth acceleration (APHV-ATO), age at Tanner stage 2 for pubic hair (PH2), genital (G2, boys) and breast (B2, girls) development, and age at menarche. Prepubertal urinary estrogen excretions (E-sum3 and E-sum5) were not associated with ATO, APHV, and age at PH2 but with duration of pubertal growth acceleration ( P < 0.01) in both sexes. Girls with higher E-sum3 reached B2 0.9 yr ( P = 0.04) and menarche 0.3 yr earlier ( P = 0.04) than girls with lower E-sum3. E-sum3 was not associated with age at G2 in boys ( P = 0.6). For most pubertal variables, the associations with E-sum3 were stronger than with E-sum5. In conclusion, prepubertal estrogens may not be critical for the onset of the pubertal growth spurt but are correlated with its duration in both boys and girls. Prepubertal estrogen levels may already predict the timing of girls' menstruation and breast development but do not appear to affect sexual maturation in boys.

Sign in / Sign up

Export Citation Format

Share Document