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Hyperandrogenism in female adolescents

Teresa Sir-Petermann, Bárbara Echiburú, Nicolás Crisosto, Manuel Maliqueo, Francisco Pérez Bravo
Polycystic ovary syndrome (PCOS) is a highly prevalent endocrine metabolic disorder and is presently considered a family pathology. It is associated with obesity, insulin resistance and metabolic syndrome. Racial, ethnic and environmental factors may be important in determining the clinical manifestations of this syndrome. Polycystic ovary syndrome is an exclusion diagnosis and, therefore, should be distinguished from the physiological changes typical for the age and from other hyperandrogenic disorders. Early diagnosis is important since this syndrome is associated with reproductive, oncologic and metabolic risks...
July 22, 2016: Current Pharmaceutical Design
Mansa Krishnamurthy, Mia M Pingul
Insulin receptor mutations cause extreme insulin resistance resulting in acanthosis nigricans and hyperandrogenism. We report a pre-menarchal adolescent female with normal weight, with severe acanthosis nigricans, acne, and hirsutism. Initial investigation revealed elevated fasting and post-prandial insulin and high testosterone and androstenedione levels. Her father had frequent complaints of hypoglycemia. Coding sequence and splice junction analysis of the INSR gene, in our patient and her father, revealed a heterozygous missense mutation in the β subunit of the insulin receptor (Arg1131Trp), resulting in receptor loss of function...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Tracy Williams, Rami Mortada, Samuel Porter
Polycystic ovary syndrome is the most common endocrinopathy among reproductive-aged women in the United States, affecting approximately 7% of female patients. Although the pathophysiology of the syndrome is complex and there is no single defect from which it is known to result, it is hypothesized that insulin resistance is a key factor. Metabolic syndrome is twice as common in patients with polycystic ovary syndrome compared with the general population, and patients with polycystic ovary syndrome are four times more likely than the general population to develop type 2 diabetes mellitus...
July 15, 2016: American Family Physician
Urania Dagalakis, Ashwini Mallappa, Meredith Elman, Martha Quezado, Deborah P Merke
BACKGROUND: Classic congenital adrenal hyperplasia (CAH) requires lifetime steroid replacement and supraphysiologic glucocorticoid dose is often required for adequate adrenal androgen suppression. Patients often suffer from long-term co-morbidities and female infertility is common. CASE PRESENTATION: We report the use of laparoscopic bilateral adrenalectomy as a treatment for a 21 year old female with classic simple virilizing CAH and infertility. She presented as an adolescent with increasing weight gain, amenorrhea and elevated adrenal androgens despite the use of dexamethasone (250 mcg given twice daily), and fludrocortisone (150 mcg daily)...
2016: International Journal of Pediatric Endocrinology
Ralf Werner, Isabel Mönig, Julia August, Clemens Freiberg, Ralf Lünstedt, Benedikt Reiz, Lutz Wünsch, Paul-Martin Holterhus, Alexandra Kulle, Ulla Döhnert, Stefan A Wudy, Annette Richter-Unruh, Christoph Thorns, Olaf Hiort
The differential diagnosis of 46,XY disorders of sex development (DSD) is based on the distinction between forms of gonadal dysgenesis and disorders of androgen biosynthesis and action. However, clinical and endocrine evaluations are often not conclusive. Here, we describe an adolescent female with hirsutism and hyperandrogenization at puberty. Her karyotype was 46,XY, and clinical investigation demonstrated clitoromegaly, but no uterine remnants were detected. Histology of the gonads revealed a testicular structure with a Sertoli-cell-only pattern...
2015: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Meri-Maija E Ollila, Terhi Piltonen, Katri Puukka, Aimo Ruokonen, Marjo-Riitta Järvelin, Juha S Tapanainen, Stephen Franks, Laure Morin-Papunen
CONTEXT: Obesity affects the majority of women with polycystic ovary syndrome (PCOS), but previous studies are inconsistent about the prevalence of obesity and the importance of weight gain in the development of the syndrome. OBJECTIVE: Our objective was to explore the association between weight, weight gain, hyperandrogenism, and PCOS from adolescence to late adulthood. DESIGN: The study includes a prospective Northern Finland Birth Cohort 1966 study including 5889 females born in 1966 and followed at the ages of 14, 31, and 46 years...
February 2016: Journal of Clinical Endocrinology and Metabolism
Robert L Rosenfield
Consensus has recently been reached by international pediatric subspecialty societies that otherwise unexplained persistent hyperandrogenic anovulation using age- and stage-appropriate standards are appropriate diagnostic criteria for polycystic ovary syndrome (PCOS) in adolescents. The purpose of this review is to summarize these recommendations and discuss their basis and implications. Anovulation is indicated by abnormal uterine bleeding, which exists when menstrual cycle length is outside the normal range or bleeding is excessive: cycles outside 19 to 90 days are always abnormal, and most are 21 to 45 days even during the first postmenarcheal year...
December 2015: Pediatrics
Carla Pelusi, Marianna Stancampiano, Flaminia Fanelli, Milena Pariali, Alessandra Gambineri, Renato Pasquali
OBJECTIVE: The aim of this study was to evaluate differences in anti-müllerian hormone (AMH) and insulin-like 3 (INSL3) levels and their association with gonadotropin and ovarian steroid hormones, as expression of ovarian function, between healthy normal-weight ovulatory and anovulatory eumenorrheic late adolescent females. STUDY DESIGN: This study analyzed AMH and INSL3 levels in forty healthy eumenorrheic late adolescent females (aged 16-19 ys), selected from a cross-sectional epidemiological study performed on the prevalence of hyperandrogenic states...
December 2015: European Journal of Obstetrics, Gynecology, and Reproductive Biology
D Aled Rees, Maneesh Udiawar, Rok Berlot, Derek K Jones, Michael J O'Sullivan
CONTEXT: Polycystic ovary syndrome (PCOS) is a disorder characterized by insulin resistance and hyperandrogenism, which leads to an increased risk of type 2 diabetes in later life. Androgens and insulin signaling affect brain function but little is known about brain structure and function in younger adults with PCOS. OBJECTIVE: To establish whether young women with PCOS display altered white matter microstructure and cognitive function. PATIENTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: Eighteen individuals with PCOS (age, 31 ± 6 y; body mass index [BMI] 30 ± 6 kg/m(2)) and 18 control subjects (age, 31 ± 7 y; BMI, 29 ± 6 kg/m(2)), matched for age, IQ, and BMI, underwent anthropometric and metabolic evaluation, diffusion tensor MRI, a technique especially sensitive to brain white matter structure, and cognitive assessment...
January 2016: Journal of Clinical Endocrinology and Metabolism
Sabri Hergüner, Hatice Harmancı, Harun Toy
OBJECTIVES: Several studies suggest that androgens are involved in the etiology of attention deficit-hyperactivity disorder (ADHD). In this study, we investigated the ADHD symptoms in women with polycystic ovary syndrome (PCOS), a complex endocrine, hormonal, and metabolic condition associated with hyperandrogenism. METHODS: Forty women between the ages of 18 and 35 years with PCOS were recruited for the study group. For comparison, 40 healthy women who had regular menses were included...
2015: International Journal of Psychiatry in Medicine
Avin S Jamil, Shahla K Alalaf, Namir G Al-Tawil, Talha Al-Shawaf
PURPOSE: Polycystic Ovary Syndrome (PCOS) is the most common endocrine disturbances in women and is divided into different phenotypes. The aim of study is to compare the clinical and hormonal parameters among the four phenotypes of PCOS based on the Rotterdam criteria and with control group. METHODS: Women with PCOS (n = 263) confirmed based on the Rotterdam criteria and 263 women with no evidence of PCOS were recruited as controls using observational case-control study...
February 2016: Archives of Gynecology and Obstetrics
E Gourgari, M Lodish, R Shamburek, M Keil, R Wesley, M Walter, M Sampson, S Bernstein, D Khurana, C Lyssikatos, S Ten, A Dobs, A T Remaley, C A Stratakis
CONTEXT: Adult women with polycystic ovarian syndrome (PCOS) have an increased risk for cardiovascular disease, but the evidence for this is controversial in adolescents and young women with PCOS. Measurement of low-density lipoprotein (LDL) particle number, measured by nuclear magnetic resonance spectroscopy is a novel technology to assess cardiovascular risk. OBJECTIVE: The objective of the study was to evaluate lipoprotein particle number and size in young women with PCOS and its relationship with insulin resistance and hyperandrogenism...
November 2015: Journal of Clinical Endocrinology and Metabolism
P Tsikouras, L Spyros, B Manav, S Zervoudis, C Poiana, T Nikolaos, P Petros, M Dimitraki, C Koukouli, G Galazios, G F von Tempelhoff
RATIONALE: To elucidate the prepubertal risk factors associated with the development of Polycystic Ovary Syndrome (PCOS) and determine the special clinical manifestations of the syndrome in this transitional time of a woman's life. OBJECTIVE: To propose therapeutic targets and regimens, not only to prevent the long-term complications of the syndrome, but also to improve the self-esteem of a young girl who matures into womanhood. METHODS AND RESULTS: A systematic review of literature was performed through electronic database searches (Pubmed, Medline and Embase)...
July 2015: Journal of Medicine and Life
A E Kulle, F G Riepe, J Hedderich, W G Sippell, J Schmitz, L Niermeyer, P M Holterhus
OBJECTIVE: Heterozygosity in 21-hydroxylase deficiency (21OHD) has been associated with hyperandrogenemic symptoms in children and adults. Moreover, the carrier status is mandatory for genetic counseling. We aimed at defining a hormonal parameter for carrier detection by mass spectrometry. DESIGN: Eleven basal and ACTH-stimulated steroid hormones of heterozygous carriers of CYP21A2 mutations and control individuals were compared. METHOD: Hormones were determined in plasma samples by liquid chromatography tandem mass spectrometry (LC-MS/MS) in 58 carriers (35 males, 23 females, age range 6-78 years) and 44 random controls (25 males, 19 females, age range 8-58 years)...
October 2015: European Journal of Endocrinology
M Geoffrey Hayes, Margrit Urbanek, David A Ehrmann, Loren L Armstrong, Ji Young Lee, Ryan Sisk, Tugce Karaderi, Thomas M Barber, Mark I McCarthy, Stephen Franks, Cecilia M Lindgren, Corrine K Welt, Evanthia Diamanti-Kandarakis, Dimitrios Panidis, Mark O Goodarzi, Ricardo Azziz, Yi Zhang, Roland G James, Michael Olivier, Ahmed H Kissebah, Elisabet Stener-Victorin, Richard S Legro, Andrea Dunaif
Polycystic ovary syndrome (PCOS) is a common, highly heritable complex disorder of unknown aetiology characterized by hyperandrogenism, chronic anovulation and defects in glucose homeostasis. Increased luteinizing hormone relative to follicle-stimulating hormone secretion, insulin resistance and developmental exposure to androgens are hypothesized to play a causal role in PCOS. Here we map common genetic susceptibility loci in European ancestry women for the National Institutes of Health PCOS phenotype, which confers the highest risk for metabolic morbidities, as well as reproductive hormone levels...
2015: Nature Communications
Pekka Pinola, Terhi T Piltonen, Johanna Puurunen, Eszter Vanky, Inger Sundström-Poromaa, Elisabet Stener-Victorin, Aimo Ruokonen, Katri Puukka, Juha S Tapanainen, Laure C Morin-Papunen
CONTEXT: Women with polycystic ovary syndrome (PCOS) have increased androgen secretion throughout fertile life; however, the data on the effect of menopause on hyperandrogenemia in these women are scarce. Nevertheless, large comprehensive comparative studies on age-related androgen levels in women with PCOS are lacking. OBJECTIVE: The objective of the study was to investigate the effect of age on serum androgen levels in women with PCOS and to determine cutoff values for androgens and SHBG associated with a PCOS diagnosis...
September 2015: Journal of Clinical Endocrinology and Metabolism
Natalie Hecht Baldauff, Silva Arslanian
Polycystic ovary syndrome (PCOS) is a heterogeneous disorder of reproduction and metabolism, which emerges at puberty, and is characterised by a wide spectrum of signs and symptoms of hyperandrogenism, anovulation, hyperinsulinaemia and associated comorbidities. Unlike adult PCOS, there are no agreed-upon diagnostic criteria for adolescent PCOS, but hyperandrogenaemia remains the sine qua non for its diagnosis. Many adolescent girls with PCOS are overweight/obese, and have a heightened risk for comorbidities such as dysglycaemia, dyslipidaemia, fatty liver disease, sleep apnoea and cardiovascular disease...
November 2015: Archives of Disease in Childhood
Francis de Zegher, Marta Díaz, Lourdes Ibáñez
No abstract text is available yet for this article.
August 2015: JAMA Pediatrics
Mimi S Kim, Anna Ryabets-Lienhard, Anh Dao-Tran, Steven D Mittelman, Vicente Gilsanz, Sheree M Schrager, Mitchell E Geffner
CONTEXT: Childhood obesity rates in congenital adrenal hyperplasia (CAH) exceed the high rates seen in normal children, potentially increasing their risk of cardiovascular disease (CVD). Abdominal adiposity, in particular visceral adipose tissue (VAT), is strongly associated with metabolic syndrome and CVD. However, it remains unknown whether VAT is increased in CAH. OBJECTIVE: The objective of the study was to determine whether adolescents and young adults with classical CAH have more VAT and sc adipose tissue (SAT) than matched controls and whether VAT and SAT are associated with biomarkers of metabolic syndrome, inflammation, and hyperandrogenism in CAH...
August 2015: Journal of Clinical Endocrinology and Metabolism
Anne Bachelot, Jean Louis Golmard, Jérôme Dulon, Nora Dahmoune, Monique Leban, Claire Bouvattier, Sylvie Cabrol, Juliane Leger, Michel Polak, Philippe Touraine
AIM: Adverse outcomes in adult congenital adrenal hyperplasia (CAH) patients are frequent. The determinants of them have not yet been established. OBJECTIVE: To establish the prevalence of adverse outcomes and to find determining factors for each of them. DESIGN, PATIENTS, AND METHODS: Cross-sectional monocentric study of 104 patients with childhood onset of CAH (71 women, 33 men). Analysis established first the determinants of clinical, hormonal, genetic variables and second a composite criterion for some of the outcomes and determinants...
August 2015: European Journal of Endocrinology
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