Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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iperplasia surrenalica congenita

6 articoli — 2005-2026

RI Percorsi clinici
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...

EL Casi indimenticabili
Una insufficienza surrenalica all'età di 11 anni

Bruno VM, Zerbato A, Rosa M, Siani P

2025/3 — pag. 66-67 — DOI

Adrenal insufficiency is a rare but potentially life-threatening condition in paediatrics. The authors report the case of an 11-year-old girl with appetite loss and hypoglycemia, initially misattributed to an eating disorder. Endocrine tests confirme...

EL I Poster degli specializzandi
Accesso libero
Una pubertà che brucia le tappe

Solidoro S

2024/26 — pag. 3-3 — DOI

The diagnosis of idiopathic central precocious puberty was eventually made in an 8-year-old boy with increased testicular volume and growth rate in the absence of bone age advancement based on an elevated baseline LH level. ...

RI Percorsi clinici
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...

EL Caso contributivo
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...

RI Aggiornamento monografico
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...

Argomenti correlati
Neonatal screening (124) Screening neonatale (56) hypoglycemia (52) Case report (48) Puberty, Precocious (45) Prenatal Diagnosis (40) hyponatremia (36) Glucocorticoids (29) ipoglicemia (25) Short stature (24) Precocious puberty (23) Gonadotropin-Releasing Hormone (20) Adrenal Insufficiency (20) hyperpigmentation (18) Bassa statura (17) Sexual development (15) Adrenal Hyperplasia, Congenital (14) crescita (11) iponatremia (11) Congenital adrenal hyperplasia (11)