Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042755 (masculinization)
 2,562 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 9-year-old boy with documented congenital adrenal hyperplasia owing to a deficiency in C21 hydroxylation is described. Precocious virilization and testicular asymmetry were noted when he was 5 years old. Both of these conditions persisted despite progressively larger doses of replacement steroid therapy. The right testis was 3 times larger than the left testis and serum testosterone was well within the adult male range. A right inguinal orchiectomy was performed. Pathologic diagnosis was interstitial cell tumor. A review of the literature emphasizes the continuing dilemma of separating interstitial cell tumors from hypertrophy of adrenal rest tissue in the presence of congenital adrenal hyperplasia. Possible methods of distinction are discussed.
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PMID:Testis tumors associated with congenital adrenal hyperplasia: a continuing diagnostic and therapeutic dilemma. 83 86

We documented 17-hydroxylase deficiency in a newborn male infant with micropenis, perineoscrotal hypospadias, and a bifid scrotum containing two histologically normal testes. Mild hypertension developed at 20 months of age. The diagnosis was made on the basis of elevated serum levels of progesterone (180-475 ng/dl), corticosterone (1.8-20.2 micrograms/dl), and desoxycorticosterone (56-330 ng/dl). There was an exaggerated response of these steroids to ACTH-(1-24) and suppression by dexamethasone. Mass spectrometric analysis of urinary steroids showed an abnormally high ratio of C21 to C19 3 beta-hydroxy-5-ene steroids due to reduced C19 steroid formation. We suggest that this infant has a form of 17-hydroxylase deficiency which is less severe than previously reported cases in view of his partial prenatal virilization, the minimal testosterone response to CG the absence of hypokalemia, and the presence of normal cortisol levels after prolonged ACTH stimulation. Family studies suggest reduced 17-hydroxylase activity in the father. A surprising coincident finding of no apparent clinical significance was in vitro evidence of 5 alpha-reductase deficiency in genital skin fibroblasts.
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PMID:Diagnosis and natural history of 17-hydroxylase deficiency in a newborn male. 608 2

In the present study, we describe the clinical, endocrinological, psychosexual and biochemical features of 7 Mexican male pseudohermaphrodites with primary 5 alpha-reductase deficiency in whom heterogeneity in the pattern of gender identity change at puberty was observed. The patients belonged to 5 different pedigrees from diverse locations in Mexico. Six of them were admitted to the Hospital during or after puberty. The one prepubertal subject was the sibling of a previously studied patient. Basal serum gonadotropins were determined by double antibody radioimmunoassay. Basal and choriogonadotropin (CG)-stimulated concentrations of androstenedione (A), testosterone (T) and dihydrotestosterone (DHT) were determined by radioimmunoassay after extraction and separation by celite chromatography. Urinary aetiocholanolone, androsterone and C19 and C21 5 beta/5 alpha metabolite ratios were analyzed by capillary gas chromatography. Enzyme activity and androgen receptors were studied in fibroblasts cultured from genital skin. Psychological assessment was performed using the Bender-Gestalt Wechsler Adult Intelligence Scale, the Rorschach Ink Blot and the Thematic Apperception Tests. All 7 patients were unambiguously reared as females; three spontaneously changed their gender identity and role from female to male after puberty, another one changed during psychotherapy at the end of puberty. Two patients (one prepubertal and the other pubertal) have been under therapy during 1.5 years, but due to familial and social factors a female gender has prevailed. The remaining patient consulted at age 15 because of virilization; her female gender identity did not change after more than one year of treatment and due to the fact she was depressed and had suicidal tendencies, the penis and testes were removed.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Male pseudohermaphroditism due to primary 5 alpha-reductase deficiency: variation in gender identity reversal in seven Mexican patients from five different pedigrees. 761 6

A 28-year old female patient with virilization due to left adrenocortical adenoma was studied. The patient had clinical features of hyperandrogenism such as hirsutism and a low pitched voice, but not of hypercorticoidism. Plasma testosterone and dehydroepiandrosterone-sulfate (DHEA-S) were high. Although the basal plasma cortisol concentration and urinary excretion of 17-hydroxycorticosteroids (17-OHCS) were within the normal range, the absence of diurnal variation in plasma cortisol and loss of suppressibility by dexamethasone suggested constitutive secretion of cortisol by the tumor. Inappropriate cortisol secretion was also supported by blunted ACTH response to provocative stimuli. After successful removal of the left adrenal tumor, such endocrinological abnormalities were all normalized. Immunohistochemical analysis revealed that tumor cells were positively stained for C21 hydroxylase cytochrome P-450 (P-450C21) and P-450(11) beta which convert 17-hydroxy (OH) progesterone to cortisol as well as P-450SCC, 3 beta-hydroxysteroid dehydrogenase and P-450(17) alpha which are involved in testosterone biosynthesis. These findings suggest that adrenocortical adenoma secretes predominantly testosterone and constitutively cortisol in a young woman patient with virilization.
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PMID:Young female patient with testosterone-producing adrenocortical adenoma also showing signs of subclinical Cushing's syndrome. 762 74