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Congenital adrenal hyperplasia

Key sources
The following summarized guidelines for the evaluation and management of congenital adrenal hyperplasia are prepared by our editorial team based on guidelines from the Japanese Society for Neonatal Screening (JSNS/JSPU/JES/JSPE 2022) and the Endocrine Society (ES 2018).
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Guidelines

1.Screening and diagnosis

Neonatal screening: as per JSNS 2022 guidelines, include screening for 21-hydroxylase deficiency in the neonatal mass screening programs.
E
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  • Screening for non-classic CAH

2.Diagnostic investigations

Clinical assessment: assess for symptoms of adrenal insufficiency (including poor feeding, weight loss, and vomiting) for the diagnosis of 21-hydroxylase deficiency. Initiate corticosteroid treatment before confirmation of the diagnosis if symptoms of adrenal insufficiency or biochemical abnormalities occur, including hyponatremia, hyperkalemia, or metabolic acidosis.
E

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3.Medical management

Prenatal treatment: as per JSNS 2022 guidelines, offer prenatal diagnosis and treatment at institutions with experts, after genetic counseling and approval from the institutional ethics committee.
B
avoid offering prenatal diagnosis and treatment in institutions with no long-term follow-up system for safety or ethical approval of clinical studies.
B

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  • Management of classic CAH (initiation of treatment)

  • Management of classic CAH (choice of agent)

  • Management of classic CAH (dose adjustments)

  • Management of non-classic CAH (initiation of treatment)

  • Management of non-classic CAH (stress dosing)

  • Management of non-classic CAH (discontinuation of treatment)

  • Emergency self-injection kit

4.Nonpharmacologic interventions

Psychological support: offer behavioral/mental health consultation and evaluation to address any concerns related to CAH in patients with CAH and their parents.
B

5.Surgical interventions

Indications for surgery: as per JSNS 2022 guidelines, discuss the advantages and disadvantages of surgery in each individual case through shared decision-making with a multidisciplinary team.
E
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6.Specific circumstances

Pregnant patients: as per JSNS 2022 guidelines, choose corticosteroid preparations with low placental transfer for maintenance therapy in adult female patients wishing to conceive.
B

7.Patient education

General counseling
Educate patients with CAH and their guardians and close contacts on adrenal crisis prevention and increasing the dose of corticosteroids (but not mineralocorticoids) during intercurrent illness.
B
Consider providing counseling regarding healthy lifestyle choices at an early age to maintain a BMI within the normal range to avoid metabolic syndrome and related sequelae.
C

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  • Genetic counseling

8.Follow-up and surveillance

Indications for referral
Refer infants with positive newborn screening results to a pediatric endocrinologist, if regionally available.
B
Consider referring patients with CAH and impaired fertility to a reproductive endocrinologist and/or fertility specialist.
C

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9.Quality improvement

Gender assignment: assign gender as female at birth in 46, XX cases with classic 21-hydroxylase deficiency. Provide continuous psychosocial support and education regarding gender identity by a multidisciplinary team.
E

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