Endocrine Abstracts

Introduction: Combined pituitary hormone deficiency (CPHD) is characterized by impaired production of pituitary hormones. A possible cause are PROP-1 mutations (prophet of Pit-1 protein). It plays an essential role in the evolution of pituitary cells secreting GH, TSH, LH, FSH, prolactin; some patients may develop late ACTH deficiency. PROP 1 gene mutation is manifested with variable degrees of phenotype-genotype correlation, with growth failure as the first sign detected in early childhood. Central hypothyroidism, delayed or absent sexual maturation and ACTH insufficiency occur progressively. On magnetic resonance (MR) imaging, the anterior lobe is usually hypoplastic but may be normal or even enlarged; the posterior lobe and the pituitary stalk are normal.

Case Description

We report a case of a 45 years old romanian man who, was admitted for decreased libido, asthenia. Physical examination–normal stature, overweight (BMI = 28.73 kg/m², 89 kg), normal blood pressure, without orthostatic hypotension, regression of sexual secondary characteristics, no syndromic abnormalities. No similar diseases in the family history. Serum hormones revealed panhypopituitarism (IGF-1 = 40 ng/ml, TSH = 0.2 mU/ml, fT4 = 0.60 ng/dl, 8 AM Cortisol = 4 mg/dl, FSH = 0.24 U/l, LH = 0.04 U/l, Testosterone = 0.63 ng/ml) and an initial elevated Prolactin (39.2 ng/ml) but after precipitation the prolactin was also low. Pituitary MR imaging showed a normal aspect of the pituitary (LL = 14.5/AP = 8.7/CC = 4 mm), without enhancement after contrast infusions. The stalk and the neurohypophysis appear in normal position. Blood DNA analysis for PROP-1 gene defects are in progress.

Conclusion: The findings illustrates combined pituitary hormone deficiency at adult age–this is quite exceptional, but further investigation is considered - DNA analysis of PROP-1 gene defects. The PROP-1 mutations are currently the most frequently recognized genetic cause of CPHD. Substitutive hormone treatment is introduced to this patient with 75 µg oral Levothyroxine, 10 mg oral Hydrocortizone and Testosterone gel, with a good clinical and biological result.