Endocrine Abstracts

We describe the course of a now 24y/o M with congenital hypopituitarism, severe micropenis, cryptorchidism, hypoplastic testes, hypospadiasis and pulmonic stenosis. He presented with neonatal hypoglycemia. MRI showed small anterior pituitary and ectopic posterior pituitary near tuberous cinereum. Pulmonic stenosis detected after auscultation of a murmur, was mild grade on echo. Free T₄ 1 ng/dl (1–2.5) TSH 6.7 μU/ml (0.2–6) glucagon stimulation for GH and cortisol were blunted at 2.9 ng/ml and <1 mg/dl respectively prolactin 3.3 ng/ml (3–14.7). He received thyroxine and hydrocortisone from infancy. Total testosterone and gondotropin were undetectable (<10 ng/dl and <3 mIU/l respectively). He received intermittent testosterone to augment penis size. Inspite of testosterone level 315–921 ng/dl (241–827) he had subnormal penis size. Height increased at constant rate until age four when it fell 2.2 S.D. below mean. GH deficiency was confirmed with flat response to arginine and dopamine, peak GH 1.8 ng/ml. GH therapy was started and he attained nl adult height. Panhypopituitarism persists into adulthood with gradual diminution of pituitary size. MRI age 24 showed small sella only containing the infundibulum. Gland itself was not visualized. Adult hormone levels are undetecetable LH and FSH, IGF 92 ng/ml (83–456) ACTH 6 pg/ml (6–50) am cortisol <0.5 mg/dl prolactin 4.7 ng/ml (2–18) TSH <0.01 mIU/l (0.4–4.5) free T₄ 1.6 ng/dl (0.8–1.8) testosterone 280 ng/dl (25–1100) free testosterone 30.8 pg/ml (35–155). He remains on thyroxine, hydrocortisone, testosterone and adult GH. Previous associations of multiple pituitary hormone deficiency were with septooptic dysplasia, cranial nerve and cerebral midline defects. This is the first case demonstrating the association of congenital hypopituitarism and cardiac anomaly specifically pulmonic stenosis. One should consider screening patients with congenital hypopituitarism for cardiac anomalies at birth. Congenitally low gonadotrophins tend to improve with age. Contrary to this FSH and LH remained low such that he required testosterone to treat micropenis. This case illustrates that pituitary size and function continues to decline. Congenital hypopituitarism diagnosed initially in adults has been reported. Gradual diminution of our patient’s pituitary size suggests need for close follow up when no or partial hormonal abnormalities are found on initial tests.

MRI age 24.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.