[Hypospadias in infancy I) pathophysiologic considerations II) hormonal balance studies (author's transl)]. 1975

J Glatzl

Animal studies (Goldman, Jost) and test results in patients with hypospadias (Bongiovanni, Zachmann, Knorr) put up the question, whether all forms of hypospadias could be caused by a disturbance or peculiarity of the adrenal or gonadal androgen metabolism. Healthy volunteers and boys with glandal, penile and scrotal hypospadias were examined for their basal hormon status and response to stimulation. The following test-results are uniform, however due to the small number of cases, we would like to use these data more as a suggestion for peculiarities of the androgen metabolism, these are: 1. signs of quantitatively decreased testosteron production. 2. signs of qualitatively deranged testosteron-biosynthesis in patients with hypospadias due to a) decrease in certain enzymes in the testosteron-biosyntheticpathway (3-beta-hydroxysteroid-dehydrogenase, 17,20-desmolase, 17-beta-hydroxysteroid oxidoreductase) b) increased peripheral conversion of androgen metabolites 3. signs of a suggested "saving" of androgens in the catabolism of those compounds and, last not least 4. signs of gonadal transformation of the adrenals, seen by increased adrenal androgen production and an adrenal transformation of the gonads, which can ultimately be considered as faulty differentiation of these 2 organ systems.

UI MeSH Term Description Entries
D007021 Hypospadias A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA. Hypospadia
D007223 Infant A child between 1 and 23 months of age. Infants
D008190 Lyases A class of enzymes that catalyze the cleavage of C-C, C-O, and C-N, and other bonds by other means than by hydrolysis or oxidation. (Enzyme Nomenclature, 1992) EC 4. Desmolase,Desmolases,Lyase
D008297 Male Males
D011276 Pregnanediol An inactive metabolite of PROGESTERONE by reduction at C5, C3, and C20 position. Pregnanediol has two hydroxyl groups, at 3-alpha and 20-alpha. It is detectable in URINE after OVULATION and is found in great quantities in the pregnancy urine.
D011279 Pregnanetriol A metabolite of 17-ALPHA-HYDROXYPROGESTERONE, normally produced in small quantities by the GONADS and the ADRENAL GLANDS, found in URINE. An elevated urinary pregnanetriol is associated with CONGENITAL ADRENAL HYPERPLASIA with a deficiency of STEROID 21-HYDROXYLASE. 5-beta-Pregnane-3,17,20-triol,5beta-Pregnane-3alpha,17alpha,20alpha-triol
D003687 Dehydroepiandrosterone A major C19 steroid produced by the ADRENAL CORTEX. It is also produced in small quantities in the TESTIS and the OVARY. Dehydroepiandrosterone (DHEA) can be converted to TESTOSTERONE; ANDROSTENEDIONE; ESTRADIOL; and ESTRONE. Most of DHEA is sulfated (DEHYDROEPIANDROSTERONE SULFATE) before secretion. Dehydroisoandrosterone,Prasterone,5-Androsten-3-beta-hydroxy-17-one,5-Androsten-3-ol-17-one,Androstenolone,DHEA,Prasterone, 3 alpha-Isomer,5 Androsten 3 beta hydroxy 17 one,5 Androsten 3 ol 17 one,Prasterone, 3 alpha Isomer
D005260 Female Females
D005835 Genitalia The external and internal organs involved in the functions of REPRODUCTION. Accessory Sex Organs,Genital Organs,Sex Organs, Accessory,Genital System,Genitals,Reproductive Organs,Reproductive System,Accessory Sex Organ,Genital,Genital Organ,Genital Systems,Organ, Accessory Sex,Organ, Genital,Organ, Reproductive,Organs, Accessory Sex,Organs, Genital,Organs, Reproductive,Reproductive Organ,Reproductive Systems,Sex Organ, Accessory,System, Genital,System, Reproductive,Systems, Genital,Systems, Reproductive
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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