Congenital adrenal hyperplasia secondary to 11β-hydroxylase deficiency in a domestic cat

Knighton, Elizabeth L

doi:10.2460/javma.2004.225.238

Cited by 12 publications

(10 citation statements)

References 15 publications

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“…Inheritance of all forms of CAH is autosomal recessive, with an overall worldwide prevalence of 1 in 15,000 live births . CAH is rare in domestic animals, reported thus far in 1 female cat and 1 Great Dane (sex not reported), suspected to be secondary to 11β‐hydroxylase deficiency in the cat and 17‐hydroxylase deficiency in the dog …”

Section: Acth Stimulation Sex Hormone Profile Results Before and Aftementioning

confidence: 99%

Congenital Adrenal Hyperplasia Associated with Mutation in an 11β‐Hydroxylase‐Like Gene in a Cat

Owens

Downey

Pressler

et al. 2012

Veterinary Internal Medicne

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A 3-year-old indeterminate sex domestic mediumhair cat was presented to the Purdue University Veterinary Teaching Hospital for further evaluation of chronic polyuria and polydipsia, foul-smelling urine, and increased serum androgen concentrations. The cat had been surrendered to a shelter 4 months previously for undetermined reasons. Diagnostic tests performed before referral included a serum biochemistry panel, CBC, urinalysis, urine culture, and ACTH stimulation testing (cortisol, aldosterone, and sex hormone assay). Abnormalities included minimally concentrated urine (specific gravity. 1.018), decreased baseline and stimulated serum cortisol and aldosterone concentrations, increased baseline progesterone, and increased baseline and stimulated 17-OH progesterone and androstenedione concentrations.The cat had a small body frame, thickened skin, gynecomastia, a fully formed penis with barbs, and an intact but empty scrotum. Initial indirect systolic blood pressure was 180 mm Hg, and remained persistently elevated during hospitalization. Clinicopathologic abnormalities included increased serum urea nitrogen concentration (41 mg/dL, reference range 15-35 mg/ dL), hypernatremia (158 mmol/L, reference range 148-157 mmol/L), and hyperglobulinemia (5.2 g/dL, reference range 2.3-3.8 g/dL). Feline leukemia and feline immunodeficiency virus status were both negative, and a CBC did not reveal abnormalities. Urine specific gravity was 1.007, with no abnormalities on urine dipstick or sediment examinations. A repeated ACTH stimulation test including sex hormone assay confirmed the previously noted abnormalities (Table 1). Endogenous ACTH concentration was increased (>1,250 pg/ mL, reference range 25-50 pg/mL).1 Abdominal radiographs did not reveal abnormalities and abdominal sonographic examination revealed anatomically normal adrenal glands and no identifiable internal genitalia.Baseline serum deoxycorticosterone (DOC), 11-desoxycortisol (11-DES), dehydroepiandrosterone (DHEA), pregnenolone, and corticosterone concentrations were measured by high-performance liquid chromatography with tandem mass spectrometry by specific assays validated to bioanalytical standards, and compared with 4 age-matched healthy cats (2 neutered males, 2 spayed females).a Serum concentrations of DOC (1,177 ng/dL [healthy control cats, 4.6-18.0]), 11-DES (3,647 ng/dL [healthy control cats, 9-29]), DHEA (155 ng/dL [healthy control cats, 9-47]), and pregnenolone (552 ng/dL [healthy control cats, 115-311]) were markedly greater than results for any of the 4 healthy cats, whereas serum corticosterone concentration (9 ng/dL [healthy control cats, 164-550]) was lower. Exploratory laparotomy was performed with the aim to identify internal testes that would explain the cat's foul-smelling urine and physical examination abnormalities. The vas deferens and spermatic cords were bilaterally identified traversing through the inguinal rings and into the scrotum, consistent with prior castration; the identity of this tissue was confirmed histopathologically. The ...

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Section: Acth Stimulation Sex Hormone Profile Results Before and Aftementioning

confidence: 99%

Congenital Adrenal Hyperplasia Associated with Mutation in an 11β‐Hydroxylase‐Like Gene in a Cat

Owens

Downey

Pressler

et al. 2012

Veterinary Internal Medicne

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“…Consequently, it is unlikely that an incorrect diagnosis of adrenal tumor would result from the increased adrenal gland size due to hyperthyroidism. However, cats with bilateral adrenal hyperplasia in pituitary‐dependent hyperadrenocorticism, hyperaldosteronism, or acromegaly have more variable adrenal gland size, from normal to mildly enlarged . Hyperaldosteronism is diagnosed only in the late stage of adrenal adenoma or hyperplasia, as the associated increase in adrenal size can be small initially .…”

Section: Discussionmentioning

confidence: 99%

Ultrasonographic Measurements of Adrenal Glands in Cats With Hyperthyroidism

Combes

Vandermeulen

Duchateau

et al. 2011

Vet Radiology Ultrasound

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Feline hyperthyroidism is potentially associated with exaggerated responsiveness of the adrenal gland cortex. The adrenal glands of 23 hyperthyroid cats were examined ultrasonographically and compared to the adrenal glands of 30 control cats. Ten hyperthyroid cats had received antithyroid drugs until 2 weeks before sonography, the other 13 were untreated. There was no difference in adrenal gland shape between healthy and hyperthyroid cats: bean-shaped, well-defined, hypoechoic structures surrounded by a hyperechoic halo in 43/60 (71.6%) healthy cats and 34/46 (73.9%) hyperthyroid cats; more ovoid in 13/60 (21.6%) healthy cats and 9/46 (19.6%) hyperthyroid cats while more elongated in 4/60 (6.7%) healthy cats, 3/46 (6.5%) hyperthyroid cats. Hyperechoic foci were present in 9/23 (39.1%) hyperthyroid cats and 2/30 (6.7%) healthy cats. The adrenal glands were significantly larger in hyperthyroid cats, although there was overlap in size range. The mean difference between hyperthyroid cats and healthy cats was 1.6 and 1.7 mm in left and right adrenal gland length, 0.8 and 0.9 mm in left and right cranial adrenal gland height, and 0.4 and 0.9 mm in left and right caudal adrenal gland height. There was no significant difference between the adrenal gland measurements in treated and untreated hyperthyroid cats. The adrenomegaly was most likely associated with the hypersecretion of the adrenal cortex documented in hyperthyroid cats. Hyperthyroidism should be an alternative to hyperadrenocorticism, hyperaldosteronism, and acromegaly in cats with bilateral moderate adrenomegaly.

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“…Two cats with CAH due to 11β-hydroxylase deficiency and one dog with 17α-hydroxylase deficiency have been described (Breitschwert, 1989;Knighton, 2004;Owens, 2012). The diagnosis was made by demonstration of hypocortisolemia and hypoaldosteronemia and increases in plasma ACTH, desoxycorticosterone, dihydroepiandrosterone, 11-desoxycortisol, and pregnenolone (Knighton, 2004;Owens, 2012). 12-22).…”

Section: Congenital Adrenal Hyperplasiamentioning

confidence: 99%