Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus. 2003

Carlo Incorvaia, and Francesco Parmeggiani, and Ciro Costagliola, and Paolo Perri, and Marzia Tittoni, and Adolfo Sebastiani
Department of Ophthalmology, University of Ferrara, Ferrara, Italy.

OBJECTIVE To report a clinical association between congenital adrenal hyperplasia and keratoconus. METHODS Observational case report. METHODS Two 25-year-old dizygotic female twins were retrospectively studied. Clinical history, hormonal serologic profile, complete ophthalmologic examination, and Holladay Diagnostic Summary variables were evaluated. In the course of a 15-month follow-up period, a progression of the corneal disease was observed. RESULTS In both twins a diagnosis of nonclassical congenital adrenal hyperplasia, due to 21-hydroxylase deficiency, was established when they were 21 years old. In one subject, the computed corneal topographic analyses diagnosed an asymmetric keratoconus in both eyes. A progressive form of fruste central keratoconus was also documented in her sister. CONCLUSIONS Congenital adrenal hyperplasia may be associated with keratoconus. An abnormal steroidogenic pathway, affecting the normal development of the cornea, could induce stromal abnormalities that lead to corneal ectasia.

UI MeSH Term Description Entries
D007640 Keratoconus A noninflammatory, usually bilateral protrusion and thinning of the CORNEA, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. Two closely related noninflammatory corneal ectasias are pellucid marginal degeneration and keratoglobus. Keratoglobus,Pellucid Marginal Corneal Degeneration,Pellucid Marginal Degeneration,Degeneration, Pellucid Marginal,Marginal Degeneration, Pellucid,Pellucid Marginal Degenerations
D003315 Cornea The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed) Corneas
D004200 Diseases in Twins Disorders affecting TWINS, one or both, at any age. Diseases in Twin,Twin, Diseases in,Twins, Diseases in,in Twin, Diseases,in Twins, Diseases
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000312 Adrenal Hyperplasia, Congenital A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. Congenital Adrenal Hyperplasia,Hyperplasia, Congenital Adrenal,Adrenal Hyperplasias, Congenital,Congenital Adrenal Hyperplasias,Hyperplasias, Congenital Adrenal
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective
D013255 Steroid 21-Hydroxylase An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL). Cytochrome P-450 CYP21,Steroid 21-Monooxygenase,21-Hydroxylase,Cytochrome P-450 21-Hydroxylase,Cytochrome P-450 c21,Cytochrome P-450(c-21),Cytochrome P450c21,Progesterone 21-Hydroxylase,Steroid-21-Hydroxylase,21 Hydroxylase,Cytochrome P 450 21 Hydroxylase,Cytochrome P 450 CYP21,Cytochrome P 450 c21,P-450 c21, Cytochrome,Progesterone 21 Hydroxylase,Steroid 21 Hydroxylase,Steroid 21 Monooxygenase
D014429 Twins, Dizygotic Two offspring from the same PREGNANCY. They are from two OVA, fertilized at about the same time by two SPERMATOZOA. Such twins are genetically distinct and can be of different sexes. Twins, Fraternal,Dizygotic Twin,Dizygotic Twins,Fraternal Twin,Fraternal Twins,Twin, Dizygotic,Twin, Fraternal

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