Disorders of Sex Development

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...

Bassa statura non sindromica e ritardo puberale: non solo ritardo costituzionale di crescita e pubertà

Campanile C, Improda N, Incoronato S, Ferrara A, Gentile G, Colantuoni M, Mandato C, Licenziati MR.

2024/9 — pag. 597-600 — DOI

A 14-year-old boy with suspected constitutional delay of growth and puberty (CDGP) presented with short stature, absence of secondary sex characteristics, bone age delayed by one year and family history of CDGP in his mother. The external genitalia w...

Bassa statura non sindromica e ritardo puberale: non solo ritardo costituzionale di crescita e pubertà

Campanile C, Improda N, Incoronato S, Ferrara A, Gentile G, Colantuoni M, Mandato C, Licenziati MR

2024/9 — pag. 171-174 — DOI

A 14-year-old boy with suspected constitutional delay of growth and puberty (CDGP) presented with short stature, absence of secondary sex characteristics, bone age delayed by one year and family history of CDGP in his mother. The external genitalia w...

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 ...

La diagnosi prenatale... ci azzecca sempre?

A. Barachino

2014/8

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...