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Therapy-Induced Growth and Sexual Maturation in a Developmentally Infantile Adult Patient with a PROP1 Mutation
Ludmila Brunerova1, Ivana Cermakova2, Bozena Kalvachova2
1Faculty Hospital Královské Vinohrady, 3rd Faculty of Medicine, II. Department of Internal Medicine, Prague, Czechia.
Insights
PROP1 gene mutations cause combined pituitary hormone deficiency, typically diagnosed in childhood. This case shows adult hormone replacement therapy can restore growth and sexual development in late-diagnosed PROP1 deficiency.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Endocrinology
Background:
- Prophet of PIT1 (PROP1) gene mutations are the most common genetic cause of combined pituitary hormone deficiency.
- This condition typically presents in childhood with growth retardation.
Observation:
- A prepubertal woman with growth retardation experienced a delayed diagnosis of combined pituitary hormone deficiency (central hypopituitarism, hypogonadism, growth hormone deficiency) due to homozygous c.150delA PROP1 mutation.
- Diagnosis occurred in young adulthood owing to challenging life circumstances.
Findings:
- Combined growth hormone (GH) and sex hormone therapy initiated in adulthood led to significant height gains, exceeding predictions.
- The patient achieved normal sexual maturation, including regular menstrual cycles.
Implications:
- Early diagnosis of panhypopituitarism due to PROP1 mutation is crucial for optimal treatment outcomes.
- This case highlights the potential for successful physiological restoration of growth and sexual development in adults with PROP1 mutations through carefully managed hormone replacement therapy.
Background:
Hypopituitarism as a result of PROP1 (prophet of PIT1) mutation represents the most common genetic cause of combined deficiency of pituitary hormones and due to growth retardation it is typically diagnosed in childhood.
Case Description:
We present a unique case report of a prepubertal woman with growth retardation in whom combined pituitary hormone deficiency [central hypopituitarism, hypogonadism, and growth hormone (GH) deficiency] caused by homozygous mutation c.150delA in the PROP1 gene was diagnosed late in young adulthood due to unfavorable life circumstances. Through cautiously combined GH therapy and sex hormone therapy, she has achieved better than expected height (exceeding predictions based on family height) and sexual maturation, including regular menstrual cycles.
Conclusion:
Early diagnosis of panhypopituitarism due to PROP1 mutation is essential for successful treatment; however, our case report shows that carefully titrated GH treatment and sex hormone substitution, although initiated in adulthood, enable restoration of physiological growth and sexual development in a hormonally infantile adult woman with a PROP1 mutation.
