Decreased Adrenomedullary Function in Infants With Classical Congenital Adrenal Hyperplasia

Kim, Mimi; Ryabets-Lienhard, Anna; Bali, Bhavna; Lane, Christianne J.; Park, Ashley H.; Hall, Sandra; Geffner, Mitchell E.

doi:10.1210/jc.2014-1274

Cited by 34 publications

(20 citation statements)

References 24 publications

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“…However, an explanation is more difficult for several cases of symptomatic hypoglycemia, which occurred despite plausible documentation of compliance with treatment and sick day rules. The prevention of severe hypoglycemia seems not to be completely covered by the current treatment recommendations, although there are reports of hypoglycemia (35,36,37,38,39,40) and adrenomedullary dysfunction (2,41,42) in limited CAH study populations. For example, in a French cohort of 45 children diagnosed with classic CAH between 1981 and 1997, at ages 1-5 years and already under treatment, eight patients had severe hypoglycemic events, two of them lethal, while only three patients had a salt-wasting crisis (18).…”

Section: Discussionmentioning

confidence: 99%

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Odenwald

Nennstiel-Ratzel

Dörr

et al. 2016

European Journal of Endocrinology

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Objective: To evaluate adrenal crises after the start of treatment up to the age of 6 years in children with classic congenital adrenal hyperplasia (CAH). Design: Analysis of data extracted from a population-based prospective long-term follow-up study of children detected in neonatal screening. Methods: Data of 102 Bavarian children with classic CAH due to 21-hydroxylase deficiency were analyzed, using parental questionnaires and medical reports. Parent-reported hospital admissions of children diagnosed with acute health impairment were included in the analysis if salt loss (hyponatremia) or hypoglycemia was documented in the discharge summary. Results: A total of 74 children (72.5%) had no report of hospital admissions with salt loss or hypoglycemia during the observational period. However, in 27.5% of the children, 22 salt-wasting crises (seven of these also with low blood glucose) and 16 hypoglycemic episodes without salt loss were reported. Furthermore, the cumulative incidence for seizures was elevated; 13 children experienced seizures during hyponatremia or hypoglycemia. Most adrenal crises were triggered by infections, often with inappropriate emergency management, but in 11 cases hypoglycemia occurred unexpectedly, without evidence of severe illness and without any management errors. Frequency of adrenal crises was 6.5 per 100 patient years (95% CI: 4.6-8.8). Conclusions: Crisis prevention remains a permanent challenge for families and physicians caring for children with classic CAH. Expert care and compliance with emergency recommendations are crucial. Further research on the interactions among glucocorticoid deficiency, adrenomedullary dysfunction, and glucose metabolism is necessary for the prevention of hypoglycemia, especially in young CAH patients.

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Section: Discussionmentioning

confidence: 99%

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Odenwald

Nennstiel-Ratzel

Dörr

et al. 2016

European Journal of Endocrinology

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“…Congenital adrenal hyperplasia (CAH) is a potentially life-threatening form of primary adrenal insufficiency characterized by cortisol, aldosterone, and epinephrine deficiencies, as well as androgen excess 1 . It is most commonly caused by a mutation in the CYP21A2 gene which encodes the enzyme 21- hydroxylase, an absence or deficiency of which leads to reduced synthesis of cortisol and aldosterone, elevated adrenocorticotropic hormone (ACTH), hyperplasia of the adrenal glands, accumulation of steroid precursors, and excessive production of androgens 2 (Figure 1).…”

Section: Introductionmentioning

confidence: 99%

Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia

et al. 2017

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Purpose Testicular adrenal rest tumors (TART) are a well-known complication for males with congenital adrenal hyperplasia (CAH), with potential infertility in adulthood. We assessed the prevalence of TART in infant to young adult males presenting to a CAH Comprehensive Care Center. Materials and Methods 35 males with CAH due to 21-hydroxylase deficiency underwent scrotal ultrasonography (7 males <5 yr, 9 males 5–12 yr, and 19 males >12 yr). There were 32 classical and 3 non-classical CAH. Bone age x-ray (BA) or advanced BA history, glucocorticoid (GC) dose, fludrocortisone (FC) dose, and serum 17-hydroxyprogesterone (17OHP), testosterone, and androstenedione levels within 3 months of the ultrasound were also recorded. Results TART were detected (TART+) in 5/35 (14%) patients overall: 1/9 (11%) 5–12 yr and 4/19 (21%) >12 yr. TART were not detected in any patients <5 yr, including one infant in poor hormonal control (youngest TART+ was 6.6 yr). All TART+ had bilateral disease and only one had suspicious physical findings. GC dose and 17OHP did not differ between TART+ and TART-. TART+ were more likely to have advanced BA (100% vs. 42%; p= 0.04) and higher FC dose (p< 0.01). All non-classical males were TART-. Conclusions TART were present in young males with classical CAH, but not in infants or toddlers. TART were associated with higher FC requirements and history of advanced BA; however, not all poorly controlled males developed TART. Longitudinal studies are needed to understand individual predisposition to TART, and the age at which to begin screening in CAH.

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“…Hypoglycemia may also be present in non-classic CAH due to cortisol deficiency, a counter-regulatory hormone that increases blood glucose levels through gluconeogenesis and glycogenolysis. 15,16 In the reported case, it was present in the neonatal stage, a time of adaptation with high metabolic demands that include an increase in counter-regulatory hormones, which went unnoticed, as in many cases.…”

Section: Mid-parental Heightmentioning

confidence: 83%

Pubertad precoz por hiperplasia adrenal congénita. Reporte de caso

Dallos-Lara

Mendoza-Rojas

2020

Rev. Fac. Med.

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Introduction: Premature pubarche occurs in girls before the age of 8 or boys before the age of 9 and is a sign of precocious puberty associated with increased growth acceleration. Precocious puberty can be caused, among others, by nonclassic congenital adrenal hyperplasia (CAH). Case presentation: This is a case of a 4 1/2-year-old who developed premature pubarche six months before consultation, and whose parents were first-degree cousins. She had advanced bone age, her external genitalia were normal and her height was inconsistent with her mid-parental height. After performing an adrenocorticotropic hormone test (ACTH test) and other hormone tests, it was found that she had high levels of 17-hydroxyprogesterone (17-OHP), which allowed diagnosing her with nonclassic CAH. Based on this diagnosis, glucorticoid therapy was ordered, and after one year of starting the treatment she had a favorable clinical outcome and did not show any secondary sex characteristics or bone age progression. Conclusion: Nonclassic CAH is the most frequent cause of precocious puberty. Considering that this type of hyperplasia may be asymptomatic during the early days or years of life, its diagnosis must be suspected in children with precocious puberty, increased growth acceleration and advanced bone age.

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Decreased Adrenomedullary Function in Infants With Classical Congenital Adrenal Hyperplasia

Cited by 34 publications

References 24 publications

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia

Pubertad precoz por hiperplasia adrenal congénita. Reporte de caso

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