Practical implications of positive test for PROP1 mutation in hypopituitarism – case report

Introduction. PROP1 mutations are the most common genetic cause of combined pituitary hormone deficiency (CPHD). PROP1-related CPHD in childhood may be associated with abnormal pituitary magnetic resonance imaging (MRI). Reported in 30% of affected patients diffusely enlarged gland may be misclassified as a pituitary mass and lead to unnecessary surgery or delay in growth hormone treatment. Case report. We describe the case of a patient who was referred to our Department at the age of 8,5 yr. Initial diagnosis was severe short stature (-4,78 SDS). He had history of micropenis and cryptorchidism, but no hypoglycemia in the neonatal period. Since the age of two he has been noticeably short, but his growth retardation became evident at the age of 8 yr. No more symptoms were noticed by parents. All his family members were from 10 to 50 centile for height. After hormonal tests thyrotropin (TSH) and growth hormone (GH) deficiency was confirmed. An adrenal functional testing at first revealed no abnormalities, after reassessment he was also diagnosed with secondary adrenal insufficiency. The level of prolactin was of normal value. MRI revealed the pituitary asymmetry with markedly enlarged gland's height, mimicking pituitary adenoma. Genetic findings confirmed normal male karyotype (46,XY) and homozygous PROP1 gene Oddzia i Klinika Endokrynologii i Diabetologii Dziecicej z Pracowni Endokrynologiczno-Metaboliczn, Uniwersytet Medyczny w Lublinie