Rare forms of congenital adrenal hyperplasia

GÜRPINAR TOSUN B., GÜRAN T.

Clinical Endocrinology, 2023 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Derleme
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1111/cen.15009
  • Dergi Adı: Clinical Endocrinology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, CAB Abstracts, EMBASE, Gender Studies Database
  • Anahtar Kelimeler: 11β-hydroxylase deficiency, 17α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase type 2 deficiency, cholesterol side-chain cleavage enzyme deficiency, P450 oxidoreductase deficiency, steroidogenic acute regulatory protein deficiency
  • Marmara Üniversitesi Adresli: Evet

Özet

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders due to pathogenic variants in genes encoding enzymes and cofactors involved in adrenal steroidogenesis. Although 21-hydroxylase, 11β-hydroxylase, 3β-hydroxysteroid dehydrogenase type 2, 17α-hydroxylase/17,20-lyase, P450 oxidoreductase, steroidogenic acute regulatory protein, cholesterol side-chain cleavage enzyme deficiencies are considered within the definition of CAH, the term ‘CAH’ is often used to refer to ‘21-hydroxylase deficiency (21OHD)’ since 21OHD accounts for approximately 95% of CAH in most populations. The prevalence of the rare forms of CAH varies according to ethnicity and geographical location. In most cases, the biochemical fingerprint of impaired steroidogenesis points to the specific subtypes of CAH, and genetic testing is usually required to confirm the diagnosis. Despite there are significant variations in clinical characteristics and management, most data about the rare CAH forms are extrapolated from 21OHD. This review article aims to collate the currently available data about the diagnosis and the management of rare forms of CAH.