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)

350 children, aged from 1 day to 20 years, were given determinations of the level of sex chromatin as a preliminary determination of sex and gonadal differentiation. 150 were initially diagnosed with Turner's syndrome, 114 with Klinefelter's syndrome, 50 cases with hermaphroditism, and 27 with suspected aberration X. Discrepancies between the content of sex chromatin and the accepted sex were found in 47 of the cases of Turner's syndrome, in 21 cases of Klinefelter's syndrome, and in 3 cases of androgenital syndrome, 3 of Morris's syndrome, 3 of testicular dysgenesia, and in 1 case of scrotal hypospadia. Determination of sex chromatin was found useful for the diagnosis of height deficiency and delayed maturation, of eunuchoid physique in boys, for infants with abnormal external genitals, and in hormonally unexplained (extra adrenal) virilization syndromes in females.
Pediatr Pol 1975 Sep
PMID:[Sex chromatin in sex determination and the diagnosis of gonadal differentiation disorders in children]. 116 42

A case of male hermaphroditism is presented. It complied with all traditional criteria of male hermaphroditism due to Leydig's cells hypoplasia (anomaly of the internal genitalia, karyotype 46, XY, presence of the testicular tissue, no response of the hypoplastic Leydig's cells to HCG stimulation with simultaneous dramatic decrease in their number in the interstitial tissue. Emphasis is on the marked difference in incomplete virilization of the external genitalia related to the occurrence of Leydig's cells insufficiency.
Pol Tyg Lek
PMID:[Hypoplasia of Leydig's cells as a cause of male pseudohermaphroditism]. 281 79

Androgen insensitivity syndrome (AIS) is caused by mutation in androgen receptor (AR) gene. This phenomenon leads to the defect of the virilization of the external genitalia and is one of the causes of human male pseudohermaphroditism. Molecular diagnosis of AR gene mutations is very complex because of heterogeneity of AR mutations. AIS is X-linked recessive trait and therefore the simple diagnosis of AIS carriers is a very important problem. Detection of AIS carriers by using the analysis of CAG repeating sequence polymorphism of exon 1 or AR gene is reported.
Ginekol Pol 1998 Mar
PMID:[Trinucleotide repeats polymorphism of the androgenic receptor gene in the detection of carriers of androgen insensitivity syndrome]. 963 78

We report a case of 24 year old patient with secondary amenorrhea, virilization and elevated serum testosterone concentration, in which cystic-solid tumor in right ovary was found. Surgical treatment was applied--adnexectomy. Histopathologic examination supported suspicion of androblastoma. After treatment regulation of menses and serum testosterone level was obtained.
Ginekol Pol 1999 May
PMID:[Androblastoma in a female patient with the signs of virility: a clinical-morphological and genetic study]. 1046 71

Excessive hair growth in androgens sensitive areas of female body is called hirsutism and it is a symptom of masculinization. Intensity of hirsutism in particular areas of the body is individual and it depends on the androgens excess rate, or increased sensitivity of hair follicles with normal androgens rate in the serum. There were 84 patients analysed, all of them hospitalized in Department of Gynecological Endocrinology Silesian Medical Academy in Katowice. The aim of this study is to check the correlation between the occurrence and intensity of hirsutism and androgens rate in the serum. In the group of patients with hirsutism the androgens rate was excessed in 72 patients but in 12 women there was an idiopathetical hirsutism diagnosed.
Ginekol Pol 2000 Sep
PMID:[Hyperandrogenism as a frequent cause of hirsutism]. 1108 62

Adrenocortical carcinoma is a rare neoplasm occurring with a frequency of 1-2 cases per million. It is characterized by significant malignancy with mean survival of about 28 months, and in the presence of documented metastases survival is shorter up to 8 months. This type of a tumor is slightly more frequent in women (58.6%) than in men (41.4%). Etiology of adrenocortical carcinoma is still unclear, but a role of genetic and environmental factors has been largely considered. Most of the carcinomas (60%) are functional and usually the first manifestation is Cushing's syndrome with virilization. The tumor size is still the best single predictor of prognosis. Histopathology specimen from biopsy or obtained during operation should be stained for Melan A, which can confirm the adrenal origin of the tumor. The only method of treatment is a complete surgical excision of the carcinoma. However, because of its dynamics, metastases cannot be reliably excluded. We presented the case of functioning adrenocortical cancer in 37-year-old patient who at time of diagnosis had 12 cm in diameter tumor of the left adrenal gland and metastases to the liver and lung. In the article the symptoms associated with hormones produced by the carcinoma, diagnostics and treatment with regard to the progression of the disease have also been discussed.
Pol Arch Med Wewn 2007 Jul
PMID:[Disseminated adrenocortical carcinoma: case report]. 1796 98

The authors describe a case of an adult woman with congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency. The patient presented not only typical features of this disease such as virilization and hypokaliemic hypertension but also rare pathologies, such as ectopic adrenal tissues, salt loss during infancy, and functional adrenomedullary hyperactivity. In spite of the severe disease and delays in its diagnosis and adequate treatment, significant improvement in appearance and normalization of blood pressure as well as the birth of a healthy child were achieved. The paper also discusses current opinions concerning the pathogenesis and treatment in CAH with 11beta-hydroxylase deficiency as well as difficulties in diagnostic and therapeutic management.
Endokrynol Pol
PMID:[Congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency. A case report]. 1934 18

Hypogonadism in men is defined as a complex of signs and symptoms due to testosterone deficiency or inappropriate production, which occurs in about 1-2%. Symptoms of hypogonadism depend primarily on the age of the male patients at the time of development of the hypogonadism (pre- or postpubertal). The dominant findings are: impaired puberty, decrease of virilization, infertility or decrease of spermatogenesis, impotence and gynecomastia. Classically hipogonadism is divided into primary (hypergonadotropic) and secondary (hypogonadotropic). The most common causes of primary hypogonadism is Klinefelter's syndrome, while secondary--pituitary tumors. "Peripheral" hypogonadism results from androgen receptor polymorphism. The role of therapy of hypogonadism is to restore or maintain proper spermatogenesis as well as testosterone replacement therapy. Gonadotropin and testosterone therapy is available in treatment of hypogonadism in men. The treatment strategy depends on the age of patient and the goals of therapy (restore of fertility and/or produce and maintain of virilization). The gonadototropins and GnRH are useful in spermetogenesis stimulation. The testosterone replacement therapy is efficacious and safe. Testosterone esters and gels are widely applied.
Endokrynol Pol
PMID:[Pathogenesis, evaluation and treatment of hypogonadism in men]. 1956 24

Congenital adrenal hyperplasia (CAH) is an autosomal recessive defect in steroidogenesis, mostly affecting 21-hydroxylase enzyme deficiency. The other seldom cortisol synthesis abnormalities include deficiencies of: 11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase, 17beta-hydroxylase, 17,20-lase and 11 beta-hydroxysteroid dwehydrogenase type 1. There are three main types, depending on the clinical level of 21-hydroxylase deficiency: (1) classical form--salt-wasting CAH (2) the classical form non- salt-wasting (3) non-classical form. CAH incidence is estimated at 1/14 000-1/10 000, of which about 70% is the classic salt-wasting form. The clinical picture varies considerably depending on the form. In the classic salt-wasting CAH may develop into the a shock. In classic CAH without loss of salt dominates virilization in girls and precocious puberty in boys. A non-classical forms usually presents as hyperandrogenisation and fertility. CAH treatment is mainly based on the use of glucocorticoid therapy, and if necessary supplemented mineralocorticoids. There is also potential to consider prenatal treatment (female fetuses diagnosed as CAH) with the use of dexamethason. However this kind of treatment is related to some medical and ethical controversies.
Pol Merkur Lekarski 2013 Nov
PMID:[Contemporary diagnosis and therapy in women with congenital adrenal hyperplasia]. 2457 52