Poster Presentation The Annual Scientific Meeting of the Endocrine Society of Australia and the Society for Reproductive Biology 2014

Idiopathic hypogonadotrophic hypogonadism and central hypothyroidism (#273)

May Lea Ong 1 , Mark Kotowicz 1 , Sam Worboy 1 , Shannon McCarthy 1
  1. Endocrinology, Barwon Health, Geelong, VIC, Australia

A 49-year-old lady presented with a history of minimal trauma fracture of the left proximal tibia and fibula neck 7 years ago. Significantly, she had a history of secondary amenorrhoea at the age of 35. Her dietary history and exercise habits were unremarkable and her family history was non-contributory. Her comorbidities comprised of haemolytic uraemic syndrome, peptic ulcer disease, hyperlipidaemia and depression. There was no history of cranial surgery or irradiation. Her medications include alendronate, pantoprazole, venlafaxine and rosuvastatin. Examination was unremarkable with a BMI of 24.9, normal secondary sexual characteristics, no signs of hyperandrogenism or galactorrhoea. Investigations were as followed:

Tests

Result

Normal range

Oestradiol-17-B  

<70 pmol/L

-

Follitropin (FSH)

5.3 IU/L

-

Lutropin (LH)

1.9 IU/L

-

Testosterone

0.7 nmol/L

0.2-1.8

TSH

0.51mU/L

0.3-4.0

Free T4

9.2 pmol/L

11.5-22

TG antibody

<15 IU/ml

<60

TPO antibody

38 IU/ml

<60

Cortisol

649 nmol/L

119-619

ACTH

6.2 pmol/L

<20

IGF-1

42.3 nmol/L

12.3-33

Ferritin

69 ug/L

8-252

MRI of the pituitary showed a pituitary gland of normal size and signal with no evidence of empty sella. This ruled out pituitary and hypothalamic mass, infiltrative lesions and infarction.

The disease most likely to cause acquired gonadotrophin deficiency is haemachromatosis, which can uncommonly be associated with other pituitary hormone deficiency1. However, this is ruled out with a normal ferritin level. Hypophysitis was another consideration although the clinicalpathological features were not inconsistent. Typically, patients have radiological findings of a pituitary mass2,3. Combined gonadotrophins and TSH deficiency can be due to PROP1 mutation. The age of onset of the first hormonal deficiency can vary although almost invariably, GH deficiency begins early in infancy or childhood resulting in short stature.

We present a case of adult-onset idiopathic hypogonadotrophic hypogonadism associated with central hypothyroidism. Further molecular and immunological testing will be necessary to ascertain the pathogenesis.

  1. Charbonnel B, Chupin M, Le Grand A, Guillon J. Pituitary function in idiopathic haemochromatosis: hormonal study in 36 male patients. Acta Endocrinol (Copenh). 1981;98(2):178.
  2. Thodou E, Asa SL, Kontogeorgos G, Kovacs K, Horvath E, Ezzat S. Clinical case seminar: lymphocytic hypophysitis: clinicopathological findings. J Clin Endocrinol Metab. 1995;80(8):2302.
  3. Cheung CC, Ezzat S, Smyth HS, Asa SL. The spectrum and significance of primary hypophysitis. J Clin Endocrinol Metab. 2001 Mar;86(3):1048-53.