[Problems typical for patients with hypopituitarism - a case presentation].

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Prop-1 gene mutations are a common cause of congenital hypopituitarism.
• Early diagnosis and treatment are crucial for managing growth deficits and hormonal deficiencies.

Observation:

• A patient diagnosed at age 8 with hypopituitarism due to Prop-1 mutation presented with significant growth deficit and multiple pituitary hormone deficiencies.
• The patient underwent 8 years of recombinant human growth hormone (rhGH), thyroxine, and estrogen therapy, followed by a 2-year period with a metabolic rhGH dose.

Findings:

• rhGH substitution therapy resulted in appropriate height attainment (168 cm) and improved quality of life.
• Long-term rhGH therapy, even at a metabolic dose post-growth completion, normalized bone mineral density and improved lipid profiles without adverse effects on glucose or insulin levels.
• A Prop-1 mutation-related pituitary tumor remained stable in size over 20 years, supporting conservative management.

Implications:

• Sustained rhGH therapy may be beneficial for bone health and metabolic parameters even after growth cessation in patients with hypopituitarism.
• Conservative management is a viable approach for stable Prop-1 mutation-associated pituitary tumors.
• This case highlights the long-term efficacy and safety of comprehensive hormone replacement therapy in congenital hypopituitarism.