A prismatic case: A 31-year old man who did not miss his pituitary.
Combined pituitary hormone deficiency (CPHD) is a rare disorder resulting from impaired production of several pituitary hormones. This report describes the 30-year history of a patient who has apparently lived without a pituitary. The patient, born in 1976, experienced recurrent episodes of hypoglycaemia (as low as 2.9 mg/dl) in early childhood and showed elevated liver enzymes up to the age of two years without specific diagnosis. At the age of approximately 13 years, he first presented at our Department of Paediatric Endocrinology (University Hospital for Children and Adolescents, Leipzig) with signs of hypopituitarism and a height SDS of - 5.4, a high pitched voice and hypogenitalism. Endocrine testing confirmed panhypopituitarism (GH 1.3 ng/mL, LH 0.8 mU/mL, FSH 0.1 mU/ml, ACTH <1.0 pmol/l, TSH 1.0 mU/l) and substitution therapy was initiated. Magnetic resonance imaging (MRI) of the sella turcica showed a planar, hypoplastic and empty sella with pituitary stalk aplasia and ectopic neurohypophysis. Currently nearly 31 years of age, though taking his medication irregularly or not at all, he claims to be in good mental and physical condition irrespective of compliance or non compliance with substitution therapy. This case illustrates the importance of continued follow-up in patients with hypopituitarism and a systemic transferral of adolescents with CPHD to the care of adult endocrinologists.
Petzold
Stefanie
S
Hospital for Children and Adolescents, University of Leipzig, Germany. stefanie.petzold@medizin.uni-leipzig.de
Keller
Alexandra
A
Keller
Eberhardt
E
Meigen
Christof
C
Hirsch
Wolfgang
W
Kratzsch
Jürgen Kratzsch
JK
Kiess
Wieland
W
Pfäffle
Roland
R
D000328:Adult; D001827:Body Height; D003266:Continuity of Patient Care; D020249:Hormone Replacement Therapy; D006801:Humans; D007006:Hypogonadism / Q000209:etiology; D007018:Hypopituitarism / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D010349:Patient Compliance; D010901:Pituitary Function Tests; D010903:Pituitary Gland, Anterior / Q000378:metabolism* / Q000473:pathology; D010907:Pituitary Hormones / Q000097:blood / Q000172:deficiency* / Q000627:therapeutic use; D016896:Treatment Outcome; D014831:Voice
D010907:Pituitary Hormones