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Meditsinskaia Sestra Oct 1971
Topics: Hirsutism; Virilism
PubMed: 5210042
DOI: No ID Found -
Hormone Research in Paediatrics 201017-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) deficiency is a rare, but frequently misdiagnosed autosomal recessive cause of 46,XY disorder of sex development... (Review)
Review
17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) deficiency is a rare, but frequently misdiagnosed autosomal recessive cause of 46,XY disorder of sex development (DSD). 17βHSD-3 enzyme is present almost exclusively in the testes and converts Δ4-androstenedione (Δ4) to testosterone (T). The diagnosis can be easily missed in early childhood as the clinical presentation may be subtle. Any young girl with an inguinal hernia, mild clitoromegaly, single urethral opening or urogenital sinus should raise suspicion. If not diagnosed early, patients present with severe virilization and primary amenorrhea in adolescence and may undergo a change from a female to male gender role. A low T/Δ4 ratio on baseline or hCG (human chorionic gonadotropin)-stimulated testing is suggestive of 17βHSD-3 deficiency. The diagnosis can be confirmed with molecular genetic studies. This review summarizes the clinical presentations, reported mutations, diagnosis, treatment and clinical course of this disorder. The Arg80 site in exon 3 is the most common location of repeated mutations and can be considered a hot spot in certain Arab populations.
Topics: 17-Hydroxysteroid Dehydrogenases; Disorder of Sex Development, 46,XY; Female; Founder Effect; Genes, Recessive; Humans; Male; Sex Reassignment Procedures; Virilism
PubMed: 20689261
DOI: 10.1159/000318004 -
Journal of Pediatric Endocrinology &... May 2019Background Steroid 21-hydroxylase deficiency is an autosomal recessive disorder, present in 90-95% of all cases with congenital adrenal hyperplasia (CAH). The classical...
Background Steroid 21-hydroxylase deficiency is an autosomal recessive disorder, present in 90-95% of all cases with congenital adrenal hyperplasia (CAH). The classical simple virilizing (SV) form of the disease causes virilization of the external genitalia in newborn females and pseudo-precocious puberty in both sexes, due to reactive androgen overproduction. Case presentation We describe a 3.5-year-old girl presenting with pubarche, P2 according to Tanner, advanced bone age of 6 years and 10 months, and high serum levels of 17-hydroxyprogesterone (17-OHP). Molecular analysis of the nine most common pseudogene-derived CYP21A2 point mutations was performed in the patient and her family members using the polymerase chain reaction/amplification-created restriction site (PCR/ACRS) method. We detected the P30L/I172N genotype in the patient. She had inherited a mild P30L mutation from her mother and a severe I172N mutation from her father. Conclusions Although the CAH phenotype is determined by the allele that produces most of the enzyme activity and the mild non-classical (NC) phenotype should be expected, the mild P30L known to be more virilizing probably induced the classical SV phenotype in our patient. A continuous regimen of hydrocortisone at a recommended dose failed to decrease the 17-OHP sufficiently. Careful tapering of the dose did not help, and her pubic hair advanced to P3 according to Tanner. Individually tailored treatment is warranted in this patient.
Topics: Adrenal Hyperplasia, Congenital; Adult; Anti-Inflammatory Agents; Child; Female; Genotype; Humans; Hydrocortisone; Male; Mutation; Pedigree; Phenotype; Steroid 21-Hydroxylase; Treatment Failure; Virilism
PubMed: 31026224
DOI: 10.1515/jpem-2018-0285 -
Menopause (New York, N.Y.) Apr 2017Testosterone treatment increases sexual desire and well-being in women with hypoactive sexual desire disorder; however, many studies have shown only modest benefits... (Review)
Review
Testosterone treatment increases sexual desire and well-being in women with hypoactive sexual desire disorder; however, many studies have shown only modest benefits limited to moderate doses. Unlike men, available data indicate women show a bell-shaped dose-response curve for testosterone, wherein a threshold dosage of testosterone leads to desirable sexual function effects, but exceeding this threshold results in a lack of further positive sexual effects or may have a negative impact. Emotional and physical side-effects of excess testosterone, including aggression and virilization, may counteract the modest benefits on sexual interaction, providing a possible explanation for a threshold dose of testosterone in women. In this commentary, we will review and critically analyze data supporting a curvilinear dose-response relationship between testosterone treatment and sexual activity in women with low libido, and also explore possible explanations for this observed relationship. Understanding optimal dosing of testosterone unique to women may bring us one step closer to overcoming regulatory barriers in treating female sexual dysfunction.
Topics: Aggression; Animals; Dose-Response Relationship, Drug; Estrogens; Female; Humans; Libido; Male; Sex Factors; Sexual Dysfunctions, Psychological; Sexuality; Testosterone; Virilism
PubMed: 28291031
DOI: 10.1097/GME.0000000000000863 -
Journal of Pediatric Endocrinology &... Apr 2004Surgery for patients with genital ambiguity must be based on an accurate diagnosis, thorough understanding of the genital anatomy and realistic expectations for the... (Review)
Review
Surgery for patients with genital ambiguity must be based on an accurate diagnosis, thorough understanding of the genital anatomy and realistic expectations for the patient, family and treating multi-specialty team. The goal is to create a functional and cosmetic outcome consonant with the gender assignment with the least amount of morbidity to the patient and family. An understanding of the normal genital neuroanatomy is essential for a successful surgical approach and outcome. Based on fetal human specimens, we have refined the three-dimensional relationship of the dorsal nerve of the clitoris, the female cavernosal nerve and the vaginal plexus. The surgical approach to patients with severe clitoral virilization should preserve erectile function and the neural innervation of the clitoris. When indicated, surgery should be performed in infancy to minimize psychological trauma and surgical complications from scarring. Herein, we review the neuroanatomy of the female genitalia and the implications for the rare patient who needs surgical reconstruction.
Topics: Clitoris; Female; Genitalia, Female; Humans; Virilism
PubMed: 15198288
DOI: 10.1515/jpem.2004.17.4.581 -
Obstetrics and Gynecology Jun 1970
Topics: Adult; Female; Humans; Liposarcoma; Ovarian Neoplasms; Testosterone; Virilism
PubMed: 5446733
DOI: No ID Found -
The Australian & New Zealand Journal of... Jun 2016Congenital adrenal hyperplasia (CAH) refers to a group of recessively inherited disorders of cortisol production, which in the classical form results in virilisation of... (Review)
Review
Congenital adrenal hyperplasia (CAH) refers to a group of recessively inherited disorders of cortisol production, which in the classical form results in virilisation of female fetuses. Since the 1980s, antenatal treatment with dexamethasone has been recommended in high-risk pregnancies to minimise the risk of virilising the female genitalia of affected fetuses. To be effective, this treatment requires implementation in early pregnancy, prior to the commencement of autonomous fetal adrenal androgen synthesis. Using this approach, seven of eight high-risk pregnancies are treated unnecessarily, prior to establishing the fetal gender or the confirmed diagnosis of a genetically affected pregnancy. In the face of ongoing concerns regarding potential adverse maternal-fetal effects of antenatal dexamethasone exposure, a review of this practice has been advocated by expert advisory groups. In this review, we summarise current controversies, potential improvements and future directions in the management of pregnancies at risk of CAH. In high-risk families, recent genomic advances include early prenatal diagnosis utilising noninvasive genetic techniques to minimise unnecessary dexamethasone exposure to unaffected fetuses. In affected pregnancies when families elect for antenatal treatment, optimal antenatal dosing regimens need to be defined and a standardised treatment and follow-up protocol are recommended. Establishment of a national registry with standardised follow-up will allow future families to be better informed of the risks and benefits of both treated and untreated fetal CAH.
Topics: Adrenal Hyperplasia, Congenital; Animals; Dexamethasone; Female; Glucocorticoids; Humans; Inappropriate Prescribing; Pregnancy; Pregnancy, High-Risk; Prenatal Care; Prenatal Diagnosis; Virilism
PubMed: 26661642
DOI: 10.1111/ajo.12423 -
Surgery Dec 1983A 73-year-old woman developed temporal balding and "hoarseness" over a 3-year interval. Investigation including extensive endocrinologic screening, abdominal computed...
A 73-year-old woman developed temporal balding and "hoarseness" over a 3-year interval. Investigation including extensive endocrinologic screening, abdominal computed tomography scanning, pelvic ultrasonography, iodocholesterol (NP-59) adrenal scanning, and selective retrograde venous sampling revealed only an elevated serum testosterone level without localization of the source. At laparotomy a 2.0 cm left ovary was found to contain a hilus (Leydig) cell tumor. The testosterone level in a blood sample from the left ovarian vein obtained intraoperatively was 9000 ng/dl, whereas a blood sample from the right ovarian vein contained 213 ng/dl. One week later her peripheral blood testosterone level was normal (8 ng/dl). The records of six other patients with ovarian hilus cell tumors were reviewed from the Memorial Hospital Registry (from 1959 to 1982). All tumors were small (ovaries were 2 to 4 cm in diameter) and benign. The average patient's age was 63 years (range: 57 to 73 years). Only three of the seven patients in our series were first seen with virilization; the tumors in the remaining four patients were found incidentally. Ovarian hilus cell tumors are rare and are difficult to diagnose, but surgeons and endocrinologists should think of this tumor when they investigate older female patients with virilization. Careful intraoperative examination of even normal-appearing ovaries is imperative, particularly if no adrenal disease is found.
Topics: Aged; Female; Humans; Leydig Cell Tumor; Middle Aged; Ovarian Neoplasms; Virilism
PubMed: 6648810
DOI: No ID Found -
Obstetrics and Gynecology Mar 1978Arrhenoblastoma is a rare complication of pregnancy. A case of fatal nonvirilizing arrhenoblastoma in a pregnant adolescent, the third such case to appear in the...
Arrhenoblastoma is a rare complication of pregnancy. A case of fatal nonvirilizing arrhenoblastoma in a pregnant adolescent, the third such case to appear in the literature, is discussed. Fifteen cases of arrhenoblastoma in pregnancy that have appeared in the recent literature are reviewed; 87% of these tumors were virilizing. When virilization is absent the diagnosis is difficult. Among the more common presenting symptoms are weight loss, nausea and vomiting, abdominal pain, and a palpable abdominal mass. Arrhenoblastoma occurring during pregnancy has a 31% maternal mortality, 44% rate of malignancy, and a 50% perinatal mortality.
Topics: Adolescent; Female; Humans; Infant, Newborn; Ovarian Neoplasms; Pregnancy; Pregnancy Complications; Sertoli-Leydig Cell Tumor; Virilism
PubMed: 203881
DOI: 10.1097/00006250-197803000-00023 -
JAMA Nov 1987A 15-year-old girl who presented with primary amenorrhea and virilization had an adrenocortical adenoma that secreted predominantly testosterone. To our knowledge, she... (Review)
Review
A 15-year-old girl who presented with primary amenorrhea and virilization had an adrenocortical adenoma that secreted predominantly testosterone. To our knowledge, she is the first peripubertal and second youngest patient with a testosterone-secreting adrenal tumor described. Serum dehydroepiandrosterone sulfate and urinary 17-ketosteroid and 17-hydroxycorticosteroid levels were normal. A tumor was located by a computed tomographic (CT) scan and by uptake of 6-beta-[75Se] selenomethylnorcholesterol. Microscopic examination of the tumor showed typical features of an adrenocortical adenoma with no histologic features characteristic of Leydig cells. Postoperatively, her hirsutism regressed, she rapidly went through puberty, and regular monthly menstruation started four months later. Finding the source of testosterone in a virilized patient can be difficult. Eleven of the 14 previously described patients with testosterone-secreting adrenal tumors initially underwent misdirected surgery on the ovaries. Review of these cases revealed that results of hormone stimulation and suppression tests are unreliable and that these tumors are usually large. Therefore, CT scanning of the adrenal glands is recommended in all patients suspected of having a testosterone-secreting tumor. If the adrenal glands on CT scan are normal, then surgery directed at the ovaries can be undertaken. Adrenal and ovarian vein catheterization is rarely necessary.
Topics: Adenoma; Adolescent; Adrenal Cortex Neoplasms; Adrenalectomy; Female; Humans; Paraneoplastic Endocrine Syndromes; Puberty; Testosterone; Tomography, X-Ray Computed; Virilism
PubMed: 3312660
DOI: No ID Found