17-ketosteroids and Hypospadias

The testicular feminization syndrome (TFS) in its complete form results in total feminization due to a nuclear inaction of androgens, and the female role should be supported with postpubertal orchiectomy to avoid the risk of malignancy. Incomplete forms of the syndrome (ITFS) include Type I n which some degree of masculinization may be observed, prompting earlier gonadectomy, and Type II or pseudovaginal perineoscrotal hypospadias (PPSH) which is always characterized by pubertal masculinization, necessitating management and support of these patients as males. Other intersex abnormalities which must be differentiated include true hermaphroditism, the Swyer syndrome, males with 17-ketosteroid reductase deficiency, and Reifenstein's syndrome.

Topics: 17-Ketosteroids; Adolescent; Adult; Androgen-Insensitivity Syndrome; Androgens; Animals; Child; Diagnosis, Differential; Disorders of Sex Development; Female; Follicle Stimulating Hormone; Humans; Hydroxysteroid Dehydrogenases; Hypospadias; Infertility, Male; Male; Mice; Rats

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Androgen-Insensitivity Syndrome; Child; Child, Preschool; Chorionic Gonadotropin; Diagnosis, Differential; Disorders of Sex Development; Female; Genetic Counseling; Genitalia, Female; Genitalia, Male; Humans; Hypospadias; Infant; Klinefelter Syndrome; Male; Mosaicism; Pregnanetriol; Progesterone; Psychosexual Development; Sex Chromosome Aberrations; Transsexualism; Turner Syndrome; Virilism

Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Androgen-Insensitivity Syndrome; Diagnosis, Differential; Disorders of Sex Development; Female; Follicle Stimulating Hormone; Genitalia, Female; Genitalia, Male; Gynecomastia; Humans; Hypospadias; Infant; Infant, Newborn; Infant, Newborn, Diseases; Infertility, Male; Karyotyping; Male; Sex Chromatin; Sex Determination Analysis; Testosterone; Virilism

A 21-year-old 46 XY individual with familial male pseudohermaphroditism was investigated. Phenotype consisted of pseudovaginal perineoscrotal hypospadias with bilateral inguinal gonads and a masculine habitus without gynecomastia. Plasma testosterone, cortisol, follicle stimulating hormone, urinary 17-ketosteroids, and 17-ketogenic steroids were within the normal male range. Plasma dihydrotestosterone was at the lower limit of the normal male range. Plasma luteinizing hormone was three times and plasma estradiol was about one and a half times the upper limit of normal for men. These results are consistent with a partial defect in the mechanism of action of testosterone. The differential diagnosis of various forms of male pseudohermaphroditism is discussed.

Topics: 17-Ketosteroids; Adult; Dihydrotestosterone; Disorders of Sex Development; Estradiol; Follicle Stimulating Hormone; Humans; Hydrocortisone; Hypospadias; Luteinizing Hormone; Male; Pedigree; Phenotype; Testosterone; Virilism

Two brothers with Reifenstein syndrome underwent LH-RH and HCG tests at various ages ranging from 13 to 17 years. We found that at age 13 the plasma LH and FSH response to one LH-RH injection was normal. After the age of 14, the basal plasma concentration of LH and FSH and their response to LH-RH became elevated. Concomitantly the plasma testosterone levels rose to abnormal levels. These findings are compatible with progressive development of primary gonadal dysfunction and with peripheral insensitivity to testosterone.

Topics: 17-Ketosteroids; Adolescent; Chorionic Gonadotropin; Disorders of Sex Development; Follicle Stimulating Hormone; Gonadotropin-Releasing Hormone; Gynecomastia; Humans; Hypospadias; Infertility, Male; Luteinizing Hormone; Male; Puberty; Testosterone

Topics: 17-Ketosteroids; Adrenal Glands; Catheterization; Child; Child, Preschool; Disorders of Sex Development; Endoscopy; Female; Gonads; Humans; Hydrocortisone; Hyperplasia; Hypospadias; Hysterosalpingography; Infant; Infant, Newborn; Karyotyping; Male; Ovary; Sex Chromatin; Sex Determination Analysis; Testis; Turner Syndrome; Urinary Bladder; Vagina

Topics: 17-Ketosteroids; Adolescent; Castration; Disorders of Sex Development; Female; Growth Disorders; Growth Hormone; Gynecomastia; Humans; Hypospadias; Hysterectomy

Topics: 17-alpha-Hydroxypregnenolone; 17-Ketosteroids; Abnormalities, Drug-Induced; Androstanes; Animals; Carbon Isotopes; Cholestanes; Chromatography, Paper; Chromatography, Thin Layer; Crystallization; Dehydroepiandrosterone; Depression, Chemical; Female; Fetus; Genitalia, Male; Hydroxyprogesterones; Hydroxysteroid Dehydrogenases; Hypospadias; In Vitro Techniques; Indenes; Male; Perineum; Pregnancy; Pregnenolone; Pyridines; Rabbits; Rats; Testis; Testosterone; Wolffian Ducts

Topics: 17-Ketosteroids; Adenoma; Adolescent; Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Adult; Aged; Alcohols; Amenorrhea; Androsterone; Carcinoma; Child, Preschool; Chromatography, Gas; Cushing Syndrome; Dehydroepiandrosterone; Etiocholanolone; Female; Genital Diseases, Male; Hirsutism; Humans; Hyperplasia; Hyperthyroidism; Hypospadias; Infant; Infertility, Male; Klinefelter Syndrome; Lactation Disorders; Male; Middle Aged; Polycystic Ovary Syndrome; Pregnancy; Pregnanetriol

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Analysis of Variance; Androgen Antagonists; Androstanes; Androsterone; Animals; Anthropometry; Body Weight; Dihydrotestosterone; Drug Antagonism; Female; Fetal Diseases; Fetus; Hypospadias; Male; Organ Size; Pregnancy; Pregnancy Complications; Pregnanes; Rats; Sterols; Testosterone; Urethra; Virilism

Topics: 17-Ketosteroids; Adolescent; Adult; Color Vision Defects; Disorders of Sex Development; Eunuchism; Follicle Stimulating Hormone; Gynecomastia; Humans; Hypogonadism; Hypospadias; Infertility, Male; Intellectual Disability; Male; Olfaction Disorders; Phenotype; Sex Chromosome Aberrations; Testicular Diseases

Topics: 17-Ketosteroids; Disorders of Sex Development; Female; Genitalia; Genitalia, Female; Genitalia, Male; Humans; Hypospadias; Infant, Newborn; Male; Turner Syndrome

Topics: 17-Ketosteroids; Adolescent; Gonadotropins; Humans; Hypospadias; Intellectual Disability; Karyotyping; Klinefelter Syndrome; Male; Sex Chromatin; Testosterone

Topics: 17-Ketosteroids; Cryptorchidism; Disorders of Sex Development; Humans; Hypospadias; Infant, Newborn; Karyotyping; Male; Sex Chromatin; Sex Chromosomes; Sex Determination Analysis

Topics: 17-Ketosteroids; Adolescent; Adrenal Hyperplasia, Congenital; Disorders of Sex Development; Female; Humans; Hypospadias; Infant; Male

Topics: 17-Ketosteroids; Adolescent; Cell Biology; Child; Chromosome Aberrations; Chromosome Disorders; Cytogenetic Analysis; Disorders of Sex Development; Female; Genitalia; Humans; Hypospadias; Infant; Infant, Newborn; Male; Mosaicism; Ovary; Ovotesticular Disorders of Sex Development; Pathology; Sex Chromatin; Testis; Urine

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; 3-Hydroxysteroid Dehydrogenases; Adrenal Gland Diseases; Adrenal Gland Neoplasms; Child; Dehydroepiandrosterone; Estriol; Histocytochemistry; Humans; Hydroxysteroid Dehydrogenases; Hyperplasia; Hypospadias; Infant; Infant, Newborn; Male; Mixed Function Oxygenases; Pathology; Testis; Urine

Topics: 17-Ketosteroids; Acid Phosphatase; Adolescent; Alkaline Phosphatase; Bone and Bones; Congenital Abnormalities; Embryology; Gonadotropins; Growth; Humans; Hypogonadism; Hypospadias; Male; Obesity; Physiology; Puberty; Sexual Maturation; Testis