OMIA 000424-9940 : Goitre, familial in Ovis aries

In other species: cattle , goat , dog , pig , domestic cat , chicken , bongo , water buffalo , golden hamster , American black bear

Possibly relevant human trait(s) and/or gene(s) (MIM number): 274700

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Enlargement of the thyroid gland, causing a swelling in the front of the neck. Familial forms of this disorder have been identified in several species. But only in cattle and goats has the molecular basis been determined. Also spelt goiter.

Species-specific description: Mayo and Mulhearn (1969) provided extensive evidence supporting autosomal recessive inheritance of this disorder in South Australian merinos. Normal thyroglobulin is absent from affected sheep, but seems to be replaced by thyroglobulin-like, albumin-like and immunoglobulin-like iodoproteins, with the latter two most probably arising from outside the thyroid gland (Dolling and Good, 1976).

Clinical features: The following details are taken from Mayo and Mulhearn (1969). Both lobes of the thyroid gland are enlarged and ovoid, usually in the range 1" to 3" (2.5 cm to 7.6cm) along their longest axes.. Other abnormalities often occur: the area surrounding the nostrils is flattened dorso-ventrally, and the transverse folds of skin ("nose wrinkle") over the nasal bones and immediately behind the nostrils are very pronounced and harsh; ears are oedematous and tend to flop, thereby giving greater prominence to the poll; carpal joints are swollen, and legs, particularly the forelegs, are bowed either inwards or outwards, resulting in oblique plantar surfaces of the hooves; some animals are low at the withers Affected lambs are generally very weak, and are often highly sensitive to the effects of harsher environmenents. Mortality is very high in the first year of life. Wool seems to be normal, except for birthcoats, which tend to be "silky" (lustrous). On post-mortem, the weight of thyroid gland varies from greater than 5 g up to 222 g, compared with a maximum of less than 5 g in normal sheep.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
1997 Henze, P., Moreno, J.C., Wohlsein, P., Engelke, A. :
Congenital goitre in lambs in northern germany [German] Tierarztliche Umschau 52:339-343, 1997.
1990 Nasseri, A.A., Prasad, M.C. :
Pathology of Female Reproductive Organs in Hypothyroidism in Sheep Indian Veterinary Journal 67:111 only, 1990.
1976 Dolling, C.E., Good, B.F. :
Congenital goitre in sheep: isolation of the iodoproteins which replace thyroglobulin Journal of Endocrinology 71:179-192, 1976. Pubmed reference: 827597.
1968 Rac, R., Hill, G.N., Pain, R.W., Hulhearn, C.J. :
Congenital goitre in Merino sheep due to an inherited defect in the biosynthesis of thyroid hormone Research in Veterinary Science 9:209-223, 1968. Pubmed reference: 4172541.
1966 Falconer, I.R. :
Studies of the congenitally goitrous sheep. Composition and metabolism of goitrous thyroid tissue Biochemical Journal 100:197-203, 1966. Pubmed reference: 6007447.
Falconer, I.R. :
Studies of the congenitally goitrous sheep. The iodinated compounds of serum, and circulating TSH Biochemical Journal 100:190-196, 1966. Pubmed reference: 4164863.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 21 May 2012