Turner syndrome masquerading as normal early puberty.

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Turner syndrome (TS) typically presents with short stature and gonadal dysgenesis.
• While most patients have complete X chromosome loss, mosaicism and structural abnormalities also occur.
• Atypical TS phenotypes, including rare instances of precocious puberty, have been documented.

Purpose of the Study:

• To describe a unique case of Turner syndrome (TS) with an Xp22.1 deletion.
• To correlate the specific karyotype with an unusual combination of clinical features.
• To investigate the phenotypic variability within Turner syndrome.

Main Methods:

• Case report detailing clinical presentation and genetic analysis.
• Review of existing literature on Turner syndrome phenotypes and Xp deletions.
• Phenotype-karyotype correlation analysis.

Main Results:

• The patient presented with short final stature and early-onset spontaneous puberty.
• Graves' disease was diagnosed in conjunction with Turner syndrome.
• Notably, the patient did not exhibit short stature during the pubertal period, contrasting with typical TS.
• The Xp22.1 deletion was identified as the genetic abnormality.

Conclusions:

• This case expands the known phenotypic spectrum of Turner syndrome.
• It suggests that Xp22.1 deletions may be associated with atypical pubertal development and autoimmune conditions like Graves' disease.
• Further research is needed to understand the genetic mechanisms underlying these varied TS presentations.