congenital adrenal hyperplasia

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...

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. ...

Sarà maschio o femmina?

L. Lucaccioni, A. Boncompagni, E. Pietrella, P.L. Ceccarelli, F. Ferrari, A. Berardi, L. Mughetti

2018/9 — pag. 561-568

After the first trimester of pregnancy future parents are commonly asked if their child will be male or female. Such a question creates many expectations and implies the true determination of the baby's identity. Indeed, since the earliest stages of ...

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

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...

DOCUMENTO DI INDIRIZZO Le urgenze endocrinologiche

G. Tonini, et al.

2003/9 — pag. 590-595

Many endocrinological disease represent, in particular conditions, a real emergency. Thireotoxicosis in Graves disease, adrenal insufficiency secondary to acute adrenal dysfunction, surgical intervention or acute disease in a SAG affected patients,...

L'effetto neurotossico dell'uso cronico di ectasisLa PCR nella diagnosi di infezioni batteriche fra in bambini da 1 a 36 mesiLo screening neonatale per l'iperplasia surrenale congenitaI livelli di cortisolo nella setticemia meningococcica fulminanteProfilassi della colonizzazione della candida nel neonato con fluconazoloIperalgesia viscerale nei bambini con alterazioni funzionali gastro-intestinaliLa stipsi da "transito lento" nei bambini

G. Bartolozzi

2002/1