Endocrine Abstracts

Introduction: PROP1-related combined pituitary hormone deficiency (CPHD) is associated with deficiencies of growth hormone (GH); thyroid-stimulating hormone (TSH); gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH); prolactin (PRL); and occasionally adrenocorticotropic hormone (ACTH).

Clinical case: We report a clinical case of a progressive CPHD in a man presenting with first symptoms of hypocortisolism at the age of 75 years. This patient’s initial symptoms were growth retardation, with final height 134 cm. There was a family history of growth retardation, namely his sister. Hypogonadism was present, with incomplete secondary sexual development and associated infertility. Hypothyroidism was diagnosed at the age of 68 years and replacement with levothyroxine was started. At the age of 75, he was admitted in the emergency room with psychiatric symptoms such as confusion and disorientation and hyponatremia. Hypocortisolism was diagnosed, treatment with hydrocortisone was started and it was referred to an endocrinology consultation. At this point cortisol, ACTH, TSH, fT3, fT4, GH, LH, FSH and PRL were measured in basal conditions, confirming central hypothyroidism, hypogonadism and hypocortisolism, a low PRL and GH deficiency. Magnetic resonance imaging evidenced a markedly atrophic anterior pituitary. Molecular analysis of PROP1 gene was performed by PCR amplification and 2 variants were detected (c.296G>A and c.358C>T) in heterozygosity in PROP1 gene.

Conclusion: With this clinical case we want to point out the late diagnosis of this patient, despite a complete clinical picture being present. This case also suggests that, in these patients, corticotrophs may be involved at a rather late age.