In other species: rock pigeon , chicken , dog , domestic cat , horse , goat , sheep

Categories: Endocrine / exocrine gland phene (incl mammary gland)

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 274500 (trait) , 606765 (gene)

Links to MONDO diseases:

• MONDO:0010133: thyroid dyshormonogenesis 2A

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Deficiency of thyroid gland activity. Also known as Goiterous congenital hypothyroidism; Congenital hypothyroidism; Thyroid dyshormonogenesis. This disorder can be caused by mutations in different genes, and forms of the disease exist that are not inherited.

Inheritance: Eustace et al. (2021): "Nongoitrous CH [congenital hypothyroidism] was presumptively diagnosed in 75% (n = 6/8) of red panda neonates from four successive litters, with a common sire and two closely related dams."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Eustace et al. (2021): "Antemortem diagnosis of CH [congenital hypothyroidism] was made in three cubs (n = 3/6) based on elevated thyroid stimulating hormone and decreased free thyroxine and total thyroxine levels. Affected cubs also had suggestive clinical signs, which included delayed growth with cretinous dwarf appearance, atonic bladder, delayed gastrointestinal motility, hypercholesterolemia, and hypocalcemia."

Pathology: Eustace et al. (2021): "On necropsy cubs (n = 4) were small with varying degrees of cretin dwarf appearance and hypoplastic thyroids with reduced to no colloid in follicles."

Control: Eustace et al. (2021): "With sodium levothyroxine therapy, two of the three cubs developed into normal adult red pandas in terms of body size, appearance, and behavior."