Precocious puberty associated with oral-facial-digital syndrome type I

Area of Science:

• Endocrinology
• Genetics
• Neurology

Background:

• Oral-Facial-Digital Syndrome type I (OFD I) is a rare genetic disorder.
• OFD I is characterized by various congenital anomalies, primarily affecting the face, mouth, and digits.
• Lingual hamartomas are a known, though not universal, feature of OFD I.

Observation:

• A female infant diagnosed with OFD I presented with signs of precocious puberty.
• The onset of puberty occurred during early infancy.
• Imaging studies suggested the presence of a hamartoma in the tuber cinereum region of the hypothalamus.

Findings:

• This case represents the first documented instance of a hypothalamic hamartoma in a patient with OFD I.
• The hypothalamic hamartoma is presumed to be the causative factor for the observed precocious puberty.
• The presence of a hypothalamic hamartoma contrasts with the more commonly observed lingual hamartomas in OFD I.

Implications:

• This case expands the known spectrum of neurological and endocrine complications associated with OFD I.
• It highlights the potential for hypothalamic hamartomas to manifest in OFD I, leading to hormonal disturbances.
• Further research may elucidate the specific genetic or developmental pathways linking OFD I to hypothalamic hamartomas and precocious puberty.