Adrenocorticotrope deficiency with clinical evidence for late onset in combined pituitary hormone deficiency caused by a homozygous 301-302delAG mutation of the PROP1 gene.

摘要: Combined pituitary hormone deficiency (CPHD) can be caused by mutation of the transcription factors POU1F1 or PROP1. More recently mutations in HESX1, LHX3 and LHX4 factor genes have also been described as a cause patients with CPHD. In most disorder is characterized an impaired production GH, TSH, PRL gonadotropins. some cases CPHD adrenocorticotropin present. We report progressive its molecular etiology woman presenting first symptoms ACTH/ cortisol at age 48 years. The 49 year old patient's initial were growth retardation 2 years hypothyroidism 5 patient never entered puberty spontaneously. No familial history delayed puberty, other At presented hypocortisolism such recurring hypoglycaemias hyponatriaemia coma. Cortisol, ACTH, fT3, fT4 GH well LH, FSH measured basal conditions. ACTH response to Insulin Tolerance Test. Molecular analysis was performed PCR amplification sequencing exon 1–3 PROP1 gene. had insufficiencies GH. normal. Serum low However, there no responses cortisol, hypoglycaemia. Magnetic resonance imaging showed hypoplastic anterior lobe. Direct revealed homozygous base-pair deletion 301–302delAG This case suggests that producing cells may involved rather late age.