Nocardioides simplex VKM Ac-2033D is an effective microbial catalyst for 3-<em>ketosteroid</em> 1(2)-dehydrogenation, and it is capable of effective reduction of carbonyl groups at C-<em>17</em> and C-20, hydrolysis of acetylated steroids, and utilization of natural sterols. Here, the complete genome sequence is reported. An array of genes related to steroid metabolic pathways have been identified.

Capillary gas chromatography was used for the acquisition of quantitative metabolic profiles of urinary steroids from normal subjects and diabetic patients. Structures of 70 steroid metabolites have been assigned tentatively through mass spectrometry. Quantitative differences between the groups of normal and pathological samples (both males and females) are seen primarily for androsterone, etiocholanolone, dehydroepiandrosterone, 11-oxygenated <em>17</em>-<em>ketosteroids</em>, corticosteroid metabolites, and a newly discovered metabolite, recently identified as a C26 pentol. The only significant difference between two different age groups of normal males was shown by androsterone.

<em>17</em>β-Hydroxysteroid dehydrogenase type 2 (<em>17</em>β-HSD2) catalyses the conversion of active <em>17</em>β-hydroxysteroids into the less active <em>17</em>-<em>ketosteroids</em> thereby controlling the availability of biologically active estrogens (E2) and androgens (T) in the tissues. The skeletal disease osteoporosis occurs mainly in post-menopausal women and in elderly men when the levels of estrogens and androgens, respectively, decrease. Since <em>17</em>β-HSD2 is present in osteoblasts, inhibition of this enzyme may provide a new and promising approach to prevent the onset of osteoporosis, keeping a certain level in estrogens and androgens in bone cells of ageing people. Hydroxynaphthyl, hydroxyphenyl and hydroxymethylphenyl-substituted moieties were synthesised as mimetics of the steroidal substrate. Compound 8 has been identified as promising scaffold for <em>17</em>β-HSD2 inhibitors displaying high activity and good selectivity toward <em>17</em>β-HSD1, ERα and ERβ.

The 11 beta-hydroxylase deficiency (11OHD) form of congenital adrenal hyperplasia is diagnosed infrequently during the newborn period. A child presumed to have the 21-hydroxylase deficiency form of congenital adrenal hyperplasia was studied extensively as an infant. The diagnosis was based on ambiguous genitalia, elevated <em>17</em>-<em>ketosteroids</em>, evidence of urinary 11-ketopregnanetriol, and salt loss. Severe hypertension was detected at 11 years, and 11 beta-hydroxylase deficiency was confirmed with elevated plasma 11-deoxycorticosterone and 11-deoxycortisol, low cortisol, and normalization of blood pressure following glucocorticoid replacement. Impaired aldosterone biosynthesis and salt loss were demonstrated during dexamethasone therapy. Salt loss during infancy does not distinguish between the 11 beta- and 21-hydroxylase deficiency forms of congenital adrenal hyperplasia.

BACKGROUND

In spite of significant changes in the management policies of intersexuality, clinical evidence show that not all pubertal or adult individuals live according to the assigned sex during infancy.

OBJECTIVE

The purpose of this study was to analyze the clinical management of an individual diagnosed as a female pseudohermaphrodite with congenital adrenal hyperplasia (CAH) simple virilizing form four decades ago but who currently lives as a monogamous heterosexual male.

METHODS

We studied the clinical files spanning from 1965 to 1991 of an intersex individual. In addition, we conducted a magnetic resonance imaging (MRI) study of the abdominoplevic cavity and a series of interviews using the oral history method.

METHODS

Our analysis is based on the clinical evidence that led to the CAH diagnosis in the 1960s in light of recent clinical testing to confirm such diagnosis.

RESULTS

Analysis of reported values for <em>17</em>-<em>ketosteroids</em>, <em>17</em>-hydroxycorticosteroids, from 24-hour urine samples during an 8-year period showed poor adrenal suppression in spite of adherence to treatment. A recent MRI study confirmed the presence of hyperplastic adrenal glands as well as the presence of a prepubertal uterus. Semistructured interviews with the individual confirmed a life history consistent with a male gender identity.

CONCLUSIONS

Although the American Academy of Pediatrics recommends that XX intersex individuals with CAH should be assigned to the female sex, this practice harms some individuals as they may self-identify as males. In the absence of comorbid psychiatric factors, the discrepancy between infant sex assignment and gender identity later in life underlines the need for a reexamination of current standards of care for individuals diagnosed with CAH.