Percorsi clinici
Dal pubarca a una sindrome genetica:
diagnosi di una malattia rara
From pubarche to genetic syndrome: diagnosis of a rare disease
Elisa Benelli1, Nagua Giurici2, Alessandro Ventura1,2, Marco Rabusin2
1Università di Trieste; 2IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
Febbraio 2017 - pagg. 107 -112
Abstract
The paper reports the case of a 2-year-old child presenting with pubarche, clitoromegaly
and seborrhoea. Her past medical history was unremarkable and no other abnormal sign
was found at the physical exam. Karyotype was normal 46 XX. Because of the presence
of pubarche and virilisation symptoms, sexual and adrenal hormones were tested:
high levels of male hormones (DHEA-S, testosterone and androstenedione) were found,
whereas adrenal hormones fell within the normal range. Due to the normality of 17-hydroxy-
progesterone level, a non-classical congenital adrenal hyperplasia was excluded.
The most probable hypothesis was a virilising tumour and in particular, because of the increase
in DHEA-S level, an adrenal gland tumour. Ultrasound and abdominal computer
tomography confirmed the diagnosis; no metastases were found at abdominal CT and
bone scan. Because of the high risk of abdominal dissemination of neoplastic cells, the
child underwent a surgery to excise the mass and a histologic diagnosis of adrenal carcinoma
was made. Adrenal carcinomas are rare tumours in paediatrics and they are often
correlated mutation in p53-gene. For this reason, all paediatric patients with adrenal carcinoma
must undergo genetic analysis to exclude Li-Fraumeni syndrome, even if family history
is no suggestive. Genetic analysis has confirmed mutation of p53 gene in the child,
her father and her brother. Li-Fraumeni is a rare autosomal dominant syndrome, characterized
by a high risk of a diverse spectrum of childhood- and adult-onset malignancies
(bone and soft tissue sarcomas, breast cancer, adrenal carcinoma, choroid plexus carcinoma,
leukaemia and lymphoma): for this reason, the child and her affected relatives underwent
periodic clinical and radiologic follow-up to exclude other malignancies.
Classificazione MeSH
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Corrispondenza: Elisa Benelli