|
Current issue
Archive
Manuscripts accepted
About the journal
Editorial board
Abstracting and indexing
Contact
Instructions for authors
Ethical standards and procedures
Editorial System
Submit your Manuscript
 
|
abstract:
Case report
Diagnostic difficulties in a patient with precocious puberty and short stature observed for Kabuki syndrome
Magdalena Kwiatkowska
1
,
Anna Mandecka
1
,
Wiktoria Kempińska
2
,
Ewa Błaszczyk
2
,
Aneta Gawlik-Starzyk
2
Pediatr Pol 2025; 100 (4)
Online publish date: 2025/10/15
View
full text
Get citation
ENW EndNote
BIB JabRef, Mendeley
RIS Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
Kabuki syndrome (KS) is a rare dysmorphic syndrome characterized by multiple congenital anomalies and developmental disorders. The presented patient, who was born with weight and length too small for gestational age, was found to have multiple co-occurring disorders, including endocrinopathy – low growth and true (central, gonadotropin-releasing hormone-dependent) precocious puberty. In order to inhibit premature puberty and improve the prognosis of final height, treatment with triptorelin was initiated at the age of eight years and continued for a further 5 years. Next-generation sequencing was performed, which revealed a variant of uncertain clinical significance, which made it impossible to unequivocally diagnose KS. In this article, we describe the long process of seeking a diagnosis for rare genetic diseases.
keywords:
Kabuki syndrome, phenotype, precocious puberty, growth deficiency |
POLSKI
