Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

Flint, Jennifer; Jacobson, Jill D.

doi:10.1155/2013/393584

Cited by 6 publications

(3 citation statements)

References 22 publications

(26 reference statements)

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“…A defect in DAX-1 gene was found on further investigation. 115…”

Section: Clinical Uses and Limitations Of 17-ohp Measurementsmentioning

confidence: 99%

17-Hydroxyprogesterone in children, adolescents and adults

Honour

2014

Ann Clin Biochem

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17-Hydroxyprogesterone (17-OHP) is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. An inherited deficiency of 21-hydroxylase leads to greatly increased serum concentrations of 17-OHP, while the absence of cortisol synthesis causes an increase in adrenocorticotrophic hormone. The classical congenital adrenal hyperplasia (CAH) presents usually with virilisation of a girl at birth. Affected boys and girls can have renal salt loss within a few days if aldosterone production is also compromised. Diagnosis can be delayed in boys. A non-classical form of congenital adrenal hyperplasia (NC-CAH) presents later in life usually with androgen excess. Moderately raised or normal 17-OHP concentrations can be seen basally but, if normal and clinical suspicion is high, an ACTH stimulation test will show 17-OHP concentrations (typically >30 nmol/L) above the normal response. NC-CAH is more likely to be detected clinically in females and may be asymptomatic particularly in males until families are investigated. The prevalence of NC-CAH in women with androgen excess can be up to 9% according to ethnic background and genotype. Mutations in the 21-hydroxylase genes in NC-CAH can be found that have less deleterious effects on enzyme activity. Other less-common defects in enzymes of cortisol synthesis can be associated with moderately elevated 17-OHP. Precocious puberty, acne, hirsutism and subfertility are the commonest features of hyperandrogenism. 17-OHP is a diagnostic marker for CAH but opinions differ on the role of 17OHP or androstenedione in monitoring treatment with renin in the salt losing form. This review considers the utility of 17-OHP measurements in children, adolescents and adults.

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“…A defect in DAX-1 gene was found on further investigation. 115…”

Section: Clinical Uses and Limitations Of 17-ohp Measurementsmentioning

confidence: 99%

17-Hydroxyprogesterone in children, adolescents and adults

Honour

2014

Ann Clin Biochem

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“…There have been reports of patients with genetically confirmed AHC whose presentations and laboratory abnormalities were consistent with congenital adrenal hyperplasia, highlighting the importance of confirmatory testing in cases of unexplained adrenal insufficiency in neonates [14]. While previous publications have described adrenal insufficiency in infants with CDH perioperatively [1], this patient exhibited no symptoms until his third week of life.…”

Section: Discussionmentioning

confidence: 80%

Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia

Verma

Purrier

Breidbart

et al. 2019

Case Reports in Pediatrics

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Congenital diaphragmatic hernia (CDH) in neonates may occur as an isolated finding, in association with other anomalies, or as part of a genetic syndrome. We report the first case of an infant with CDH who presented with hyponatremic seizures due to adrenal hypoplasia congenita (AHC). The patient underwent repair of CDH defect. After an uncomplicated postoperative course while on discharge planning, he developed a seizure episode associated with severe hyponatremia and hyperkalemia. Extensive diagnostic workup revealed an NR0B1 gene variant confirming the diagnosis of X-linked AHC. The patient was eventually discharged home on hydrocortisone, fludrocortisone, and salt supplements. There are a few case reports of adrenal insufficiency in neonates with CDH, manifesting with symptoms before and immediately after reparative surgery. Clinical presentation of our patient was unique in manifesting as neonatal seizure secondary to severe hyponatremia after a stable postoperative phase. The patient’s electrolytes and hemodynamic status remained stable before, during, and after surgery for CDH. This case underlines the importance of taking detailed family history and continued vigilance for signs and symptoms of adrenal insufficiency in infants with repaired CDH by pediatricians and intensivists.

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“…• У пациентов с нетипичным течением ВДКН или развитием АГ рекомендуется проводить диагностику ГФ ВДКН путем комплексного определение концентрации стероидных гормонов методом тандемной масс-спектрометрии с исследованием уровня 11-дезоксикортизола в крови [1,4,6,178].…”

Section: диагностика дефицита 11β-гидроксилазыunclassified