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Medecine Sciences : M/S Feb 2022Polycystic ovary syndrome is a frequent endocrinopathy, affecting between 8% and 13% of women of childbearing age and characterized by hyperandrogenism, chronic...
Polycystic ovary syndrome is a frequent endocrinopathy, affecting between 8% and 13% of women of childbearing age and characterized by hyperandrogenism, chronic anovulation and polycystic ovary morphology. Women with PCOS also have a higher prevalence of obesity, metabolic disorders and an increased risk of diabetes, systemic hypertension and dyslipidemia. The first-line treatment for women with PCOS who do not plan to conceive in the short term includes lifestyle changes and combined oral contraceptives, offering, in addition to contraception, endometrial protection and reduction of hyperandrogenism. Progestin-only contraceptives are recommended for women with contraindications to estrogen contained in combined oral contraceptives. Cosmetic procedures can be added to pharmacological treatment for hirsutism. Severe cases may require anti-androgen drugs which will be combined with contraception. For overweight patients with cardiometabolic risk factors, including insulin resistance or dysglycemia, metformin may also be combined with contraception. In conclusion, the choice of contraception in women with PCOS includes an approach tailored to the individual needs of each patient.
Topics: Anovulation; Contraception; Female; Hirsutism; Humans; Hyperandrogenism; Polycystic Ovary Syndrome
PubMed: 35179472
DOI: 10.1051/medsci/2022002 -
Journal of Medical Case Reports May 2022Adrenocortical carcinoma is a rare malignancy (0.5-2 cases/million/year) with a poor prognosis. Hypercortisolism, virilization, and compressive features are among the...
BACKGROUND
Adrenocortical carcinoma is a rare malignancy (0.5-2 cases/million/year) with a poor prognosis. Hypercortisolism, virilization, and compressive features are among the common presentations of adrenocortical carcinoma. Hematuria is one of the rare initial presentations of adrenocortical carcinoma reported in the literature. We report a case of adrenal carcinoma presenting with microscopic hematuria.
CASE PRESENTATION
A 67-year-old Sri Lankan patient with diabetes, hypertension, and ischemic heart disease presented with an acute coronary event. During the routine evaluation, microscopic hematuria was detected without proteinuria or active sediments. She denied any painful micturition, previous similar episodes, or abdominal pain. Further evaluation revealed a hypokalemia with biochemical evidence of hypercortisolism and high testosterone levels with suppressed adrenocorticotropic hormone levels. On imaging, there was evidence of a right suprarenal mass 7 cm × 3 cm × 6 cm in size that was hypoechoic and lobulated and suggestive of a lipid-poor tumor. She underwent adrenalectomy. By the time of surgery 3 weeks later, significant weight gain with features of Cushing syndrome, including hirsutism, skin atrophy, easy bruising without virilization, and proximal myopathy, were noted. Histology identified a right-sided adrenal tumor with capsular and vascular invasion. Hypercortisolism and hematuria disappeared after surgery. The patient was referred for further oncological management.
CONCLUSION
This case illustrates a rare presentation of adrenal carcinoma. Awareness of this presentation may facilitate early evaluation and management.
Topics: Adrenal Cortex Neoplasms; Adrenocortical Carcinoma; Aged; Cushing Syndrome; Female; Hematuria; Humans; Virilism
PubMed: 35637536
DOI: 10.1186/s13256-022-03398-4 -
The Journal of Clinical Endocrinology... Apr 2021Virilization is the medical term for describing a female who develops characteristics associated with male hormones (androgens) at any age, or when a newborn girl shows... (Review)
Review
UNLABELLED
Virilization is the medical term for describing a female who develops characteristics associated with male hormones (androgens) at any age, or when a newborn girl shows signs of prenatal male hormone exposure at birth. In girls, androgen levels are low during pregnancy and childhood. A first physiologic rise of adrenal androgens is observed at the age of 6 to 8 years and reflects functional activation of the zona reticularis of the adrenal cortex at adrenarche, manifesting clinically with first pubic and axillary hairs. Early adrenarche is known as "premature adrenarche." It is mostly idiopathic and of uncertain pathologic relevance but requires the exclusion of other causes of androgen excess (eg, nonclassic congenital adrenal hyperplasia) that might exacerbate clinically into virilization. The second modest physiologic increase of circulating androgens occurs then during pubertal development, which reflects the activation of ovarian steroidogenesis contributing to the peripheral androgen pool. However, at puberty initiation (and beyond), ovarian steroidogenesis is normally devoted to estrogen production for the development of secondary female bodily characteristics (eg, breast development). Serum total testosterone in a young adult woman is therefore about 10- to 20-fold lower than in a young man, whereas midcycle estradiol is about 10- to 20-fold higher. But if androgen production starts too early, progresses rapidly, and in marked excess (usually more than 3 to 5 times above normal), females will manifest with signs of virilization such as masculine habitus, deepening of the voice, severe acne, excessive facial and (male typical) body hair, clitoromegaly, and increased muscle development. Several medical conditions may cause virilization in girls and women, including androgen-producing tumors of the ovaries or adrenal cortex, (non)classical congenital adrenal hyperplasia and, more rarely, other disorders (also referred to as differences) of sex development (DSD). The purpose of this article is to describe the clinical approach to the girl with virilization at puberty, focusing on diagnostic challenges. The review is written from the perspective of the case of an 11.5-year-old girl who was referred to our clinic for progressive, rapid onset clitoromegaly, and was then diagnosed with a complex genetic form of DSD that led to abnormal testosterone production from a dysgenetic gonad at onset of puberty. Her genetic workup revealed a unique translocation of an abnormal duplicated Y-chromosome to a deleted chromosome 9, including the Doublesex and Mab-3 Related Transcription factor 1 (DMRT1) gene.
LEARNING OBJECTIVES
Identify the precise pathophysiologic mechanisms leading to virilization in girls at puberty considering that virilization at puberty may be the first manifestation of an endocrine active tumor or a disorder/difference of sex development (DSD) that remained undiagnosed before and may be life-threatening. Of the DSDs, nonclassical congenital adrenal hyperplasia occurs most often.Provide a step-by-step diagnostic workup plan including repeated and expanded biochemical and genetic tests to solve complex cases.Manage clinical care of a girl virilizing at puberty using an interdisciplinary team approach.Care for complex cases of DSD manifesting at puberty, such as the presented girl with a Turner syndrome-like phenotype and virilization resulting from a complex genetic variation.
Topics: Adrenal Hyperplasia, Congenital; Adrenarche; Androgens; Child; Female; Humans; Puberty; Virilism
PubMed: 33367768
DOI: 10.1210/clinem/dgaa948 -
Indian Journal of Dermatology,... 2022
Topics: Autoantibodies; Hirsutism; Humans; Hypertrichosis; Paraneoplastic Syndromes
PubMed: 33871203
DOI: 10.25259/IJDVL_448_20 -
Acta Endocrinologica (Bucharest,... 2021Hidradenitis suppurativa (HS) is a chronic, debilitating disease with a profound impact on the quality of life of patients.
BACKGROUND
Hidradenitis suppurativa (HS) is a chronic, debilitating disease with a profound impact on the quality of life of patients.
OBJECTIVES
To describe a rare case of HS with postmenopausal onset, to review the literature data regarding late onset HS and to discuss the current knowledge on the role of endocrine abnormalities in the development of HS.
CASE REPORT
We report the case of a 68-year-old patient in whom HS occurred 10 years after menopause. She was referred to our clinic for the presence of an open fistula on the left groin, fibrotic scars and visible alteration of the vulvar anatomy due to numerous surgical interventions. The patient shared features of the metabolic syndrome (obesity, arterial hypertension, dyslipidemia, aortic atherosclerosis), but showed no signs of virilism and no hormonal abnormality. HS was controlled using antiseptics, topical retinoids and antibiotics.
CONCLUSIONS
This case is of particular interest given the late onset of HS, long time after menopause. The development of HS requires a complex interaction between genetic predisposing factors, endocrine dysregulation, metabolic alterations, bacterial overgrowth and an aberrant inflammatory response. Evidence points to an important role of sex-hormones in the emergence and progression of the disease, but the underlying mechanisms are still unclear. A better understanding of HS pathogenesis is needed to elucidate the precise way in which endocrine factors influence the disease onset and course. This would guide the way to novel therapies and a better control of this challenging disease.
PubMed: 34925580
DOI: 10.4183/aeb.2021.274 -
International Journal of Molecular... Dec 2022Androgens such as testosterone and dihydrotestosterone (DHT) are essential for male sexual development, masculinisation, and fertility. Testosterone is produced via the... (Review)
Review
Androgens such as testosterone and dihydrotestosterone (DHT) are essential for male sexual development, masculinisation, and fertility. Testosterone is produced via the canonical androgen production pathway and is essential for normal masculinisation and testis function. Disruption to androgen production can result in disorders of sexual development (DSD). In the canonical pathway, 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) is viewed as a critical enzyme in the production of testosterone, performing the final conversion required. HSD17B3 deficiency in humans is associated with DSD due to low testosterone concentration during development. Individuals with mutations have poorly masculinised external genitalia that can appear as ambiguous or female, whilst having internal Wolffian structures and testes. Recent studies in mice deficient in HSD17B3 have made the surprising finding that testosterone production is maintained, male mice are masculinised and remain fertile, suggesting differences between mice and human testosterone production exist. We discuss the phenotypic differences observed and the possible other pathways and enzymes that could be contributing to testosterone production and male development. The identification of alternative testosterone synthesising enzymes could inform the development of novel therapies to endogenously regulate testosterone production in individuals with testosterone deficiency.
Topics: Humans; Male; Female; Mice; Animals; Testosterone; Androgens; Virilism; Mutation; Dihydrotestosterone; 17-Hydroxysteroid Dehydrogenases
PubMed: 36555196
DOI: 10.3390/ijms232415555 -
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 -
Frontiers in Endocrinology 2020
Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adult; Child; Female; Hirsutism; Humans; Male; Patient-Centered Care; Polycystic Ovary Syndrome; Prognosis; Treatment Outcome; Young Adult
PubMed: 32296393
DOI: 10.3389/fendo.2020.00170 -
Acta Bio-medica : Atenei Parmensis Sep 2020Polycystic ovarian syndrome is a common endocrinologic condition diagnosed in women of childbearing age. It is primarily associated with androgen excess and ovarian... (Review)
Review
Polycystic ovarian syndrome is a common endocrinologic condition diagnosed in women of childbearing age. It is primarily associated with androgen excess and ovarian dysfunction, which contribute to menstrual irregularity, oligo-anovulation, infertility, hirsutism and acne. It is associated with several systemic conditions, including type 2 diabetes mellitus, cardiovascular disease, obesity and neuropsychological disorders. The exact pathophysiology and clinical features are highly variable and, thus, there is still controversy in defining the diagnostic criteria. In this review, we outline the main diagnostic criteria, discuss the mechanisms involved in the complex pathogenesis, and present the associated clinical manifestations and therapeutic management of the syndrome in adolescents.
Topics: Adolescent; Diabetes Mellitus, Type 2; Female; Hirsutism; Humans; Infertility; Obesity; Polycystic Ovary Syndrome
PubMed: 32921781
DOI: 10.23750/abm.v91i3.10162