Karyotyping

La sfida diagnostica nei mosaicismi della sindrome di Turner

Battistella N

2026/4 — pag. 101-101 — DOI

The clinical case describes the case of a paediatric patient, initially evaluated for short stature and selective eating habits, who was diagnosed with mosaic Turner syndrome (45,X/46,XX) only during her adolescence. Despite growth remaining at the l...

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...

La sindrome di Klinefelter

Cattoni A, Nicolosi ML, Tarani L, Selicorni A.

2024/3 — pag. 181-183 — DOI

Quando pensare alla sindrome di Noonan

Zuliani E

2024/1 — pag. 13-14 — DOI

Noonan syndrome is a pleomorphic genetic disorder that causes cardiovascular involvement in a high percentage of affected individuals. Care includes attentiveness to several comorbidities, some directly impacting cardiac management (bleeding diathese...

Amenorrea primaria e sindrome di Mayer-Rokitansky-Küster-Hauser

F. Corrias

2020/3 — pag. 60-60

Piccola, ma non abbastanza

A. Lavagetto, S. Vignola, P. Gianiorio, G. Ottonello

2019/1 — pag. 47-48