Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel–Lindau syndrome

✍ Scribed by James C. Barton; Edison Goncalves; Avni Santani; Balasundaram Chandra-Sekar; E. Carter Morris; Britton B. Carter; Catherine A. Stolle

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 86 KB
• Volume: 149A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.32698

✦ Synopsis

Intrasellar hemangioblastoma (HBL) has been described in few patients with von Hippel-Lindau (VHL) syndrome [Rho 1969;Dan and Smith, 1975;Sawin et al., 1996]. We report on a 26-year-old white man who presented with intermittent headache and dizziness and also complained of infertility. He did not have anosmia. His father died at age 62 of heart disease; his mother, two full brothers, and two half-brothers reported that they were healthy. He was small (height 160 cm, weight 43.6 kg) and had markedly decreased secondary sexual characteristics, including small testicles ($15 cm 3 each). Neurologic examination was normal. Funduscopic examination revealed a small HBL in the left superior retina.

MRI scanning revealed a cystic mass in the left cerebellar hemisphere; there was deviation of the brain stem and moderate compression of the fourth ventricle (Fig. 1). A homogeneous 1.5 cm mass filled the sella turcica and extended slightly into the suprasellar cistern; the posterior pituitary was displaced posteriorly and compressed against the dorsum sellae. There was marked enhancement of the intrasellar mass after injection of gadolinium diethyltriaminepentacetic acid (Gd-DTPA) (Fig. 2). CT scans of the abdomen and pelvis were normal. Hemoglobin was 150 g/L.

Serum hormone levels were: total testosterone 1.42 nmol/mL (reference 8.36-28.70 nmol/mL), free (direct) testosterone 0.03 nmol/L (reference 0.17-0.73 nmol/L), luteinizing hormone <0.3 IU/L (reference 1.5-9.3 IU/L), and follicle-stimulating hormone 1.7 IU/L (reference 1.4-18.1 IU/L). Serum level of prolactin was 643 pmol/L (reference 91-743 pmol/L); a.m. cortisol level was 477 nmol/L (reference interval 119-618 nmol/L). Thyroid-stimulating hormone level was 1.473 IU/L (reference 0.350-5.50 IU/L) and free thyroxine level was 9.53 pmol/L (reference interval 9.00-19.68 pmol/L). Baseline serum growth hormone level was 1.9 mg/L (reference 0-6 mg/L). Insulin-like growth factor 1 (IGF-1) level was 141 nmol/L (reference 152-469 nmol/L). After stimulation with glucagon (1 mg given