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Cureus Nov 2022Clitoromegaly is the abnormal enlargement of the clitoris. Its etiology is often divided into congenital and acquired causes, leading to a differential diagnosis that is...
Clitoromegaly is the abnormal enlargement of the clitoris. Its etiology is often divided into congenital and acquired causes, leading to a differential diagnosis that is quite broad. Workup often includes serum hormone testing, imaging studies, and sometimes an investigation into genetic and nonhormonal causes, which can be obtained from a detailed patient history. Exposure to exogenous or endogenous androgens can directly stimulate and enlarge the clitoris, resulting in early virilization. Transdermal testosterone gel can be transferred from the skin of an adult to the skin of a child. Topical testosterone gel is an approved therapy for the treatment of hypoandrogenism in males. While it offers a convenient means of treatment, there is a concern about unintentional exposure to females and children from skin contact with the application site. Here, we report a case of an infant who presented to a pediatric endocrinology clinic for clitoromegaly that was possibly due to exogenous exposure to testosterone.
PubMed: 36475158
DOI: 10.7759/cureus.31101 -
Revista Da Associacao Medica Brasileira... 2022In this study, the hormone profile, lipid profile, and inflammatory parameters of patients with polycystic ovary syndrome were compared with those of non-polycystic...
OBJECTIVE
In this study, the hormone profile, lipid profile, and inflammatory parameters of patients with polycystic ovary syndrome were compared with those of non-polycystic ovary syndrome patients to determine predictive markers in young polycystic ovary syndrome patients who have not yet had children.
METHODS
Patients' age, height, weight, body mass index, waist circumference, degree of hirsutism, and ultrasound findings were recorded. Hormone profile, lipid levels, ratio of complete blood count parameters, monocyte/high-density lipoprotein ratio, and total cholesterol/high-density lipoprotein ratio were compared between groups.
RESULTS
No statistically significant differences were found between groups in terms of age, weight, waist circumference, body mass index, and dysmenorrhea (p>0.05). A significant relationship was found between the height and the degree of hirsutism in the groups (p<0.05). It was found that prolactin, total testosterone, and dehydroepiandrosterone sulfate levels were statistically significantly higher in the polycystic ovary syndrome group compared to the control group. The polycystic ovary syndrome group had hemoglobin, leukocytes, lymphocytes, neutrophils, platelets, and statistically higher ratios of total cholesterol/high-density lipoprotein, Low-density lipoprotein/high-density lipoprotein, and triglycerides/high-density lipoprotein. No statistically significant relationships were found between homeostatic model assessment insulin resistance, neutrophil-to-lymphocyte ratio, and monocyte-to-high-density lipoprotein ratio between the groups (p<0.05). There was no significant difference in systemic immune inflammation index values between the groups.
CONCLUSION
Polycystic ovary syndrome patients are at risk for short- and long-term complications, and the use of the total cholesterol/high-density lipoprotein, Low-density lipoprotein/high-density lipoprotein, and triglycerides/high-density lipoprotein ratios in clinical practice during the follow-up of these patients may allow easy follow-up for patients. The health status of polycystic ovary syndrome patients can be objectively determined by tracking these outcomes at regular intervals.
Topics: Child; Female; Humans; Lipoproteins, HDL; Hirsutism; Polycystic Ovary Syndrome; Lipoproteins, LDL; Triglycerides; Testosterone; Cholesterol
PubMed: 36449764
DOI: 10.1590/1806-9282.20220854 -
Journal of Applied Genetics Feb 2023A 14-month-old female Miniature Poodle dog with an enlarged clitoris and asymmetry in the placement of the teats was subjected to clinical, histopathological, and...
A 14-month-old female Miniature Poodle dog with an enlarged clitoris and asymmetry in the placement of the teats was subjected to clinical, histopathological, and genetic studies. Macroscopically, the uterus and fallopian tubes appeared normal, while both ovaries were diffusely altered. At histology, the ovarian parenchyma was almost completely effaced by a diffuse hyperplasia of theca cells with atretic primary follicles. Chromosome analysis showed pure (non-mosaic) X monosomy (77,X). This finding was confirmed by the highly sensitive droplet digital PCR (ddPCR) approach. Despite the observed virilization, molecular analysis did not show the presence of Y-linked genes (SRY, ZFY, and TSPY1) in the blood cells or ovary tissue. To the best of our knowledge, this is the first case of X monosomy in a dog associated with virilization.
Topics: Humans; Female; Dogs; Animals; Virilism; Monosomy; Polymerase Chain Reaction; X Chromosome; Cell Cycle Proteins
PubMed: 36441391
DOI: 10.1007/s13353-022-00739-3 -
Journal of Neuroendocrinology Dec 2022Polycystic ovary syndrome (PCOS) is the most common endocrinopathy to affect women of reproductive-age world-wide. Hyperandrogenism is both a hallmark feature of PCOS,...
Polycystic ovary syndrome (PCOS) is the most common endocrinopathy to affect women of reproductive-age world-wide. Hyperandrogenism is both a hallmark feature of PCOS, and is hypothesised to be an underlying mechanism driving the development of the condition in utero. With circulating hormones known to profoundly influence maternal responses in females, we aimed to determine whether maternal behaviour is altered in a well-described prenatally androgenised (PNA) mouse model of PCOS. Mouse dams were administered with dihydrotestosterone or vehicle on days 16, 17 and 18 of pregnancy. Maternal responses were assessed in both the dihydrotestosterone-injected dams following parturition and in their adult female PNA offspring. Exposure of dams to excess androgens during late pregnancy had no detrimental effects on pregnancy outcomes, including gestation length, pup survival and gestational weight gain, or on subsequent maternal behaviour following parturition. By contrast, PNA virgin females, modelling PCOS, exhibited enhanced maternal behaviour when tested in an anxiogenic novel cage environment, with females rapidly retrieving pups and nesting with them. In comparison, most control virgin females failed to complete this retrieval task in the anxiogenic environment. Assessment of progesterone receptor and oestrogen receptor α immunoreactivity in the brains of virgin PNA and control females revealed increased numbers of oestrogen receptor α positive cells in the brains of PNA females in regions well known to be important for maternal behaviour. This suggests that increased oestrogenic signalling in the neural circuit that underlies maternal behaviour may be a possible mechanism by which maternal behaviour is enhanced in PNA female mice.
Topics: Animals; Female; Mice; Pregnancy; Androgens; Dihydrotestosterone; Estrogen Receptor alpha; Polycystic Ovary Syndrome; Reproduction; Virilism; Maternal Behavior
PubMed: 36416198
DOI: 10.1111/jne.13206 -
The Journal of Clinical Endocrinology... Apr 2023Postmenopausal hyperandrogenism is a condition caused by relative or absolute androgen excess originating from the ovaries and/or the adrenal glands. Hirsutism, in other... (Review)
Review
Postmenopausal hyperandrogenism is a condition caused by relative or absolute androgen excess originating from the ovaries and/or the adrenal glands. Hirsutism, in other words, increased terminal hair growth in androgen-dependent areas of the body, is considered the most effective measure of hyperandrogenism in women. Other symptoms can be acne and androgenic alopecia or the development of virilization, including clitoromegaly. Postmenopausal hyperandrogenism may also be associated with metabolic disorders such as abdominal obesity, insulin resistance, and type 2 diabetes. Mild hyperandrogenic symptoms can be due to relative androgen excess associated with menopausal transition or polycystic ovary syndrome, which is likely the most common cause of postmenopausal hyperandrogenism. Virilizing symptoms, on the other hand, can be caused by ovarian hyperthecosis or an androgen-producing ovarian or adrenal tumor that could be malignant. Determination of serum testosterone, preferably by tandem mass spectrometry, is the first step in the endocrine evaluation, providing important information on the degree of androgen excess. Testosterone >5 nmol/L is associated with virilization and requires prompt investigation to rule out an androgen-producing tumor in the first instance. To localize the source of androgen excess, imaging techniques are used, such as transvaginal ultrasound or magnetic resonance imaging (MRI) for the ovaries and computed tomography and MRI for the adrenals. Bilateral oophorectomy or surgical removal of an adrenal tumor is the main curative treatment and will ultimately lead to a histopathological diagnosis. Mild to moderate symptoms of androgen excess are treated with antiandrogen therapy or specific endocrine therapy depending on diagnosis. This review summarizes the most relevant causes of hyperandrogenism in postmenopausal women and suggests principles for clinical investigation and treatment.
Topics: Female; Humans; Hyperandrogenism; Androgens; Diabetes Mellitus, Type 2; Postmenopause; Polycystic Ovary Syndrome; Virilism; Testosterone; Adrenal Gland Neoplasms
PubMed: 36409990
DOI: 10.1210/clinem/dgac673 -
Scientific Reports Nov 2022Vitamin E supplementation might have favorable effects on risk factors of polycystic ovary syndrome (PCOS). This systematic review and meta-analysis aimed to summarize... (Meta-Analysis)
Meta-Analysis
Vitamin E supplementation might have favorable effects on risk factors of polycystic ovary syndrome (PCOS). This systematic review and meta-analysis aimed to summarize the effects of vitamin E supplementation or vitamin E in combination with omega-3 or magnesium on PCOS. PubMed, Scopus, ISI Web of Science, Cochrane, Embase electronic databases, and Google scholar were searched for all available articles up to September 2022. Randomized controlled trials (RCTs) that examined the effect of vitamin E supplementation or vitamin E in combination with omega-3 or magnesium on lipid and glycemic profiles, anthropometric measurements, biomarkers of inflammation and oxidative stress, hormonal profile, and hirsutism score in patients with PCOS were included. Ten RCTs (with 504 participants) fulfilled the eligible criteria. Vitamin E supplementation or vitamin E in combination with omega-3 or magnesium in comparison to placebo could significantly reduce serum levels of TG (weighted mean difference: - 18.27 mg/dL, 95% CI - 34.68 to - 1.87), VLDL (- 5.88 mg/dL, 95% CI - 8.08 to - 3.68), LDL-c (- 12.84 mg/dL, 95% CI - 22.15 to - 3.52), TC (- 16.30 mg/dL, 95% CI - 29.74 to - 2.86), TC/HDL-c ratio (- 0.52, 95% CI - 0.87 to - 0.18), hs-CRP (- 0.60 ng/mL, 95% CI - 0.77 to - 0.44), hirsutism score (- 0.33, 95% CI - 0.65 to - 0.02) and significantly increase nitric oxide levels (2.79 µmol/L, 95% CI 0.79-4.79). No significant effect was found on HDL-c, glycemic indices, hormonal profile, anthropometric measurements, and other biomarkers of inflammation or oxidative stress. This meta-analysis highlights the potential anti-hyperlipidemic, anti-oxidant, and anti-inflammatory properties of vitamin E supplementation alone or in combination with omega-3 or magnesium on PCOS patients.
Topics: Humans; Female; Magnesium; Polycystic Ovary Syndrome; Hirsutism; Dietary Supplements; Fatty Acids, Omega-3; Vitamin E; Biomarkers; Inflammation; Antioxidants
PubMed: 36402830
DOI: 10.1038/s41598-022-24467-0 -
Endocrine Journal Mar 2023Hyperandrogenism is a state of androgen excess that can induce hirsutism and oligo/amenorrhea in women of reproductive age. Therapeutic strategies differ according to... (Review)
Review
Hyperandrogenism is a state of androgen excess that can induce hirsutism and oligo/amenorrhea in women of reproductive age. Therapeutic strategies differ according to etiology. Hence, the differential diagnosis of hyperandrogenism is crucial. The adrenal gland is an important organ that produces androgens. One common cause of hyperandrogenism is androgen-secreting adrenal tumors; however, adrenocortical oncocytic neoplasms (ACONs) are rare. A 23-year-old woman presented with severe hirsutism and menstrual disorders for 2 years. Her Ferriman-Gallway hirsutism score was 15 at her first consultation. Her menstrual cycles were irregular, and her menstrual flow had diminished gradually over the past 2 years. She had a remarkable elevation of total testosterone, dehydroepiandrosterone sulfate and androstenedione. Pelvic ultrasonography showed normal morphology of the uterus and bilateral ovaries. Computed tomography revealed a giant left adrenal tumor with a diameter of 12 cm. The patient then underwent robotic-assisted adrenal tumor resection. Histopathological assessment indicated adrenocortical oncocytic neoplasm with uncertain malignant potential. After 4 years of follow-up, no recurrence of symptoms was noted, and this patient delivered a healthy infant on her due date in October 2021. This article reviews the clinical features, diagnosis, and treatment of ACONs and highlights the importance of differential diagnosis for hyperandrogenism in women.
Topics: Humans; Female; Young Adult; Adult; Hyperandrogenism; Hirsutism; Androgens; Testosterone; Polycystic Ovary Syndrome; Adrenal Gland Neoplasms
PubMed: 36384706
DOI: 10.1507/endocrj.EJ22-0277 -
Fertility and Sterility Jan 2023
Topics: Female; Humans; Flutamide; Polycystic Ovary Syndrome; Androgen Antagonists; Hirsutism
PubMed: 36372099
DOI: 10.1016/j.fertnstert.2022.11.009 -
Orphanet Journal of Rare Diseases Nov 2022Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by repetitive subcutaneous or submucosal angioedema, activation of the kinin... (Review)
Review
Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by repetitive subcutaneous or submucosal angioedema, activation of the kinin system, and increased vascular permeability. C1-inhibitor (C1-INH) deficiency, the main mechanism of HAE pathogenesis, occurs when abnormal activation of plasma kallikrein, bradykinin, and factor XII, or mutation of genes such as SERPING1 cause quantitative or functional C1-INH defects. Although androgens are not approved for HAE treatment in many countries, they are widely used in China and Brazil to reduce the frequency and severity of HAE attacks. The long-term adverse effects of androgen treatment are concerning for both physicians and patients. Virilization, weight gain, acne, hirsutism, liver damage, headache, myalgia, hematuria, menstrual disorders, diminished libido, arterial hypertension, dyslipidemia, and anxiety/depression are commonly observed during long-term treatment with androgens. These adverse effects can affect the quality of life of HAE patients and often lead to treatment interruption, especially in women and children. In-depth studies of the pathogenesis of HAE have led to the approval of alternative treatment strategies, including plasma-derived C1 inhibitor, recombinant human C1 inhibitor, plasma Kallikrein inhibitor (ecallantide; lanadelumab), and bradykinin B2 receptor antagonist (icatibant), some of which have achieved satisfactory results with mostly non-serious side effects. Therefore, a new standard of medical care may expand possibilities for the management of HAE in emerging countries.
Topics: Child; Humans; Female; Angioedemas, Hereditary; Androgens; Plasma Kallikrein; Quality of Life; Complement C1 Inhibitor Protein; Bradykinin B2 Receptor Antagonists
PubMed: 36324138
DOI: 10.1186/s13023-022-02536-x -
BMC Endocrine Disorders Nov 2022Ovarian steroid cell tumors (SCTs), not otherwise specified (NOS), are rare, with few large studies. The purpose of this study was to analyze the clinical features,... (Review)
Review
BACKGROUND
Ovarian steroid cell tumors (SCTs), not otherwise specified (NOS), are rare, with few large studies. The purpose of this study was to analyze the clinical features, prognosis, and treatment choices for these patients of different age groups.
METHODS
This was a retrospective study. We identified nine cases of ovarian steroid cell tumor, not otherwise specified, confirmed by post-operative histopathological examination, and analyzed clinical features, surgical procedures, and follow up outcomes. We also reviewed cases reports of ovarian steroid cell tumors, not otherwise specified.
RESULTS
A total of nine cases were included. The age range was 9-68 years (mean, 41.89 ± 19.72 years). Clinical features included virilization, amenorrhea, abdominal pain, vaginal bleeding, isosexual precocious puberty, Cushing's syndrome, and abnormal weight gain with elevated testosterone levels. The follow up interval ranged 5-53 months and no recurrence was observed.
CONCLUSION
Ovarian steroid cell tumors covered all age groups, with manifestations of androgen excess. Younger patients appeared to have a more favorable prognosis, which provided more opportunities for these patients to pursue treatment options that will preserve reproductive function.
Topics: Female; Humans; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Retrospective Studies; Sex Cord-Gonadal Stromal Tumors; Ovarian Neoplasms; Virilism; Steroids
PubMed: 36316664
DOI: 10.1186/s12902-022-01170-9