[Peripheral precocious puberty: 46, XY complete gonadal dysgenesis]

Area of Science:

• Pediatric Endocrinology
• Genetics
• Reproductive Medicine

Background:

• Precocious puberty requires thorough etiological investigation despite standard diagnostic tools.
• Peripheral precocious puberty necessitates a comprehensive workup, especially when ovarian tumors are suspected.

Observation:

• A 4-year-old phenotypically female child presented with premature pubarche and thelarche, accelerated growth, and elevated estradiol and testosterone with prepubertal gonadotropins (FSH, LH).
• Investigations revealed bilateral gonadoblastoma as the cause of peripheral precocious puberty.

Findings:

• Genetic analysis identified a 46 XY karyotype with a specific SRY gene mutation (c.89G>T, p.Arg30Ile) in exon 1, confirming complete gonadal dysgenesis.
• The findings establish a direct link between SRY gene mutation, complete gonadal dysgenesis, and peripheral precocious puberty.

Implications:

• Disorders of sexual differentiation should be considered in the differential diagnosis of peripheral precocious puberty.
• Ovarian tumors like gonadoblastoma and dysgerminoma are critical considerations in evaluating pediatric precocious puberty.
• This case underscores the need for integrated genetic and endocrine assessment in complex pediatric endocrine presentations.