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

We report on a male with trisomy Xq resulting from an isochromosome Xq which is preferentially inactivated: 47,XY,+i(Xq). Six previous cases have been reported. These patients are similar to patients with classical Klinefelter syndrome (47,XXY) in that they have infertility, decreased masculinization, gynecomastia, and elevated luteinizing hormone (LH) and follide stimulating hormone (FSH) levels. They may differ in having average intelligence and normal to short stature. These findings indicate that extra copies of the long arm of X have phenotypic expression, even though activated only in early development.
 ...
PMID:Trisomy Xq in a male: the isochromosome X Klinefelter syndrome. 360 95

Masculinization of a female fetus occurred during a pregnancy in which the mother received danazol for infertility due to endometriosis. The biochemical theories and the necessary treatment are outlined. Conception may occur before or during a course of danazol, and patients should be made aware of the need for concomitant contraception.
 ...
PMID:Danazol and fetal masculinization: a warning. 405 52

Serum androgens and 17-hydroxyprogesterone concentrations and HLA genotypes were determined in 124 families of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH). In 8 pedigrees, we discovered 16 pubertal or postpubertal family members of either sex who had biochemical evidence of 21-hydroxylase deficiency but were without clinical symptoms of excess virilism, amenorrhea, or infertility. We designated these family members as individuals with cryptic 21-hydroxylase deficiency. Within each generation, the family members with cryptic 21-hydroxylase deficiency were HLA identical. It is proposed that these family members are genetic compounds, having 21-hydroxylase deficiency as a result of two recessive gene defects: 1) a severe 21-hydroxylase gene defect present in the index case with classical CAH (21-OHCAH) and 2) a mild 21-hydroxylase gene defect (21-OHCRYPTIC). Thus, the CAH genotype in the family members with cryptic 21-hydroxylase deficiency is 21-OHCAH/21-OHCRYPTIC. Lod score analysis for linkage between the cryptogenic 21-OH trait and HLA gave a combined Lod score for males and females of theta = 0.00 of 3.409. Close genetic linkage between HLA and 21-OHCRYPTIC was thus established. This study provides support for the previously reported heterogeneity of 21-hydroxylase deficiency which may result from allelic variability at the locus for steroid 21-hydroxylase.
 ...
PMID:Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia. 644 18

In gonadal dysgenesis, the presence of the Y sex chromosome appears to have a strong influence on the development of germ cell tumours. The risk of malignancy associated with other sex chromosomal abnormalities is much lower. In the present report, the clinical manifestations--including primary amenorrhoea, tall stature, infertility and poor development of the genitalia and breasts--associated with a predominantly 47, XXX karyotype are described. Malignant change of the streak ovary to an unusual gonadal stromal tumour with lipid-containing cells occurred at a late stage in her life, and this was associated with progressive virilization and production of androgenic and oestrogenic steroids. In view of the risk of malignancy as well as the abnormal endocrine effects, especially in the presence of a Y chromosome, there is a place for the prophylactic removal of these dysgenetic gonads.
 ...
PMID:Malignant stromal tumour of the ovary with virilizing effects in an XXX female with streak ovaries. Clinical and pathological studies. 693 3

Two sisters (28 and 30 years) were investigated for primary infertility and milk hirsutism. Both had normal puberty, were having regular menses and had normal female sexual characteristics. Studies revealed elevated urinary 17-ketosteroid levels (15.8, 18.8 mg/24 hours) and increased serum levels of 17-OH-progesterone (2,756, 1,121 ng/dl), 21-desoxycortisol (1,882, 1,090 ng/dl), progesterone (300, 346 ng/dl), dehydroepiandrosterone (DHA) (1,600, 1,700 ng/dl), and androstenedione (402, 366 ng/dl) and testosterone (100, 104 ng/dl), together with a slight increase in serum 11-desoxycortisol (1,180, 1,560 ng/dl). Blood pressure, serum sodium/potassium plasma renin and serum aldosterone, corticosterone, 11-desoxycorticosterone and cortisol levels were normal. The administration of ACTH caused a further increase in 21-hydroxylase precursors; the administration of dexamethasone normalized hormone levels and produced ovulatory cycles. Similar studies in two siblings were normal. The affected sisters were HLA identical and did not share any HLA antigens with their healthy siblings. The data suggest that these patients have a mild form of 21-hydroxylase deficiency which was insufficient to cause prenatal virilization. The gene for this disorder may be allelic with that for typical congenital adrenal hyperplasia.
 ...
PMID:Adult-onset familial adrenal 21-hydroxylase deficiency. 696 21

Sexuality includes eroticism. Though its determinants are multivariate and developmentally sequential, most current biological theories arbitrarily exclude social determinants, and vice versa. Developmentally, masculinization is not necessarily synonymous with defeminization, nor feminization with demasculinization. In the development of brain and behavior, behavior that appears to be either male or female may actually be sex-shared but sex-different in the threshold for its expression. Parent-child bonding is a precursor of subsequent erotosexual pair-bonding. Suppression of erotosexual rehearsal play in childhood is a precursor of postpubertal and adult erotosexual pathology. The criterion defining the heterosexual, bisexual, and homosexual conditions is the sex of the partner with whom a limerent (falling-in-love) pairbond is possible; and there is no evidence that pubertal sex steroids, per se, are responsible for which of the three it will be. The phases of an erotosexual encounter are proception, acception, and conception. The disorders of proception, manifested in both imagery and practice, are the paraphilic syndromes (formerly known as perversions). The disorders of acception may be either hypophilic deficiencies, or hyperphilic increases. The disorders of conception are those of infertility. There is a nonsystematic relationship of erotosexualism to the hormonal cycle of the menses and to gerontological hormonal changes.
 ...
PMID:The development of sexuality and eroticism in humankind. 703 48

Virilizing adrenal carcinoma is a rare disease, especially in women of reproductive age. A young woman who was seen with hirsutism, virilization, and infertility had a well-differentiated adrenal cortical carcinoma. After treatment she conceived twice and currently is disease free 8 years after treatment. This case illustrates that adrenal carcinoma and its treatment need not eliminate a woman's reproductive potential.
 ...
PMID:Virilizing adrenal carcinoma in a woman of reproductive age: a case presentation and literature review. 777 52

Ovarian hyperthecosis has been described exclusively as bilateral. It occurs predominantly in perimenopausal women but may be seen at any age after puberty. In a young woman, stromal hyperthecosis is characterized by virilism, menstrual disorders and infertility. Ovarian suppression therapy, induction of ovulation and wedge resection of the ovaries have been ineffective, and only bilateral oophorectomy has caused regression of virilism in these patients. Conservative surgery in appropriate cases may save many young women desiring pregnancy from having bilateral oophorectomy. This case report describes a unique situation in which a young woman with ovarian hyperthecosis achieved three pregnancies after unilateral oophorectomy, indicating the possibility of unilateral ovarian hyperthecosis in our patient.
 ...
PMID:Pregnancy after unilateral oophorectomy in a woman with hyperthecosis ovarii. A case report. 780 88

Women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency often have a polycystic ovary-like syndrome, consisting of hyperandrogynism, infertility, menstrual irregularities, and elevated LH levels. This is generally considered secondary to poor control of the congenital adrenal hyperplasia. However, our experience led us to suspect that ovarian hyperandrogenism occurs even when congenital adrenal hyperplasia is well controlled on glucocorticoid therapy. Therefore, we tested the hypothesis that congenital adrenal virilizing disorders result in ovarian hyperandrogenism. We studied eight women with congenital adrenal virilizing disorders, seven with well controlled classic 21-hydroxylase deficiency and one with congenital virilizing adrenal carcinoma removed at 1.7 yr of age. We also studied six women with late-onset 21-hydroxylase deficiency, without signs of congenital virilization. An ovarian source of androgens was assessed after suppressing adrenal function with dexamethasone and then testing pituitary-ovarian function by a GnRH agonist (nafarelin) test. Five women with congenital adrenal virilizing disorders (four with classic 21-hydroxylase deficiency and one with congenital virilizing adrenal carcinoma) and one women with late-onset 21-hydroxylase deficiency had ovarian hyperandrogenism as determined by subnormal suppression of free testosterone after dexamethasone and/or by increased 17-hydroxyprogesterone response to nafarelin while on dexamethasone. All women with congenital adrenal virilization and ovarian hyperandrogenism had elevated LH levels after dexamethasone or elevated early LH response to nafarelin, which suggests that LH excess is the cause of their ovarian hyperandrogenism. This was not the case for the late-onset 21-hydroxylase-deficient woman. Our data are compatible with the hypothesis that congenital adrenal virilization programs the hypothalamic-pituitary axis for hypersecretion of LH at puberty. This is postulated to frequently cause ovarian hyperandrogenism even when adrenal androgen excess is subsequently controlled by glucocorticoid therapy.
 ...
PMID:Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women. 796 25

Androgen insensitivity syndromes (AIS) are due to end-organ resistance to androgenic steroids in males leading to defective virilization of the external genitalia. The phenotype encompasses a wide array of genital ambiguity and may range from completely female to undervirilized but unequivocally male with infertility. This disorder is caused by mutations of the androgen receptor and is an X-linked recessive trait. We have studied 47 patients with AIS and have characterized the underlying molecular abnormality in the androgen receptor gene. Twenty patients had complete AIS and twenty-seven had partial AIS. Of the latter, 11 were of predominantly female phenotypic appearance and gender was assigned accordingly, while 16 were raised as males. Within the group of complete AIS, two patients had gross deletions within the gene, one had a small deletion, and one had an insertion. In the other patients with complete AIS, as well as all individuals with partial AIS, single nucleotide substitutions within the coding region were detected, each leading to an amino acid alteration. Seven codons were involved in more than one mutation in different cases. In addition, in one patient with spinal and bulbar muscular atrophy, an elongation of a glutamine-repeat was characterized. We conclude that mutations in the androgen receptor gene may be present throughout the whole coding region. However, our study provides evidence that several mutational hot spots exist.
 ...
PMID:The clinical and molecular spectrum of androgen insensitivity syndromes. 872 13


<< Previous 1 2 3 4 5 6 7 Next >>