Steroid 21-Hydroxylase

Le insidie della iperplasia surrenalica congenita tra eterogeneità genetica e variabilità fenotipica

Pollari F, Lo Cascio A, Maggio MC, Serra G, Corsello G.

2026/5 — pag. 309-316 — DOI

Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders affecting adrenal steroidogenesis. The most common form is 21-hydroxylase deficiency (CYP21A2), while mutations in other genes, such as STAR, may cause rar...

Insufficienza surrenalica: rara ma non troppo

G. Patti, G. Tornese, M.C. Pellegrin, K. Vecchiato, E. Faleschini, A. Ventura

2016/1 — pag. 21-26

Adrenal insufficiency is a rare condition in childhood. Clinical characteristics of adrenal insufficiency in children may be non-specific. Therefore, the diagnosis may be suspected late. If unrecognized, adrenal insufficiency may present with life-...

Una tumefazione del clitoride

V. Graziani, M. Mainetti, F. Currò, S. Dal Bo, P. Ghetti, A. Zucchini, F. Marchetti

2014/2 — pag. 113-115

Pubarca precoce, irsutismo, amenorrea e bassa statura: quale diagnosi?

A. Zucchini, F. Marchetti

2013/1 — pag. 35-38

Non-classical congenital adrenal hyperplasia (NCCAH) is an autosomal recessive disease that appears during childhood with hyperandrogenic symptoms. The article reports a case of NCCAH due to 21-hydroxylase deficiency in a 14-year-old girl with prem...

Dalle curve di crescita alla diagnosi di sindrome adrenogenitale

D. Cimino, V. Giacchi

2012/7 — pag. 463-464

Non-classical congenital adrenal hyperplasia (NC CAH) is an autosomal recessive disease that appears during childhood with hyperandrogenic symptoms (premature pubarche, accelerated growth, advanced bone age, penile enlargement, and hypertrophy of...

Dalle curve di crescita alla diagnosi di sindrome adrenogenitale

D. Cimino, V. Giacchi

2012/7

Non-classical congenital adrenal hyperplasia (NC CAH) is an autosomal recessive disease that appears during childhood with hyperandrogenic symptoms (premature pubarche, accelerated growth, advanced bone age, penile enlargement, and hypertrophy of...

Sindrome adreno-genitale congenita da deficit di 21-idrossilasi

A. Balsamo, A. Cicognani

2005/5 — pag. 293-301

Congenital adrenal hyperplasia (CAH) refers to a group of inherited disorders of adrenal steroidogenesis. More than 90% of CAH is due to 21-hydroxylase deficiency (21-OH-D), found in 1:10.000 to 1:15.000 live births as classical form and detected i...