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Hyperandrogenism in female adolescents

Panagiota Filippou, Roy Homburg
BACKGROUND: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting reproductive-aged women. The pathophysiology of this syndrome is still not completely understood but recent evidence suggests that the intra-uterine environment may be a key factor in the pathogenesis of PCOS, in particular, hyperexposure of the foetus to androgens. High concentrations of maternal serum testosterone during pregnancy have been shown to influence behaviour during childhood, the prevalence of autism disorders and anti-Mullerian hormone (AMH) concentrations in adolescence...
July 1, 2017: Human Reproduction Update
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Alexia A P Phedonos, Michalis Picolos, Elena Andreou, Tassos C Kyriakides, George A Tanteles, Christos Shammas, Leonidas A Phylactou, Nicos Skordis
Heterozygosity for CYP21A2 mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and women with CYP21A2 mutations and variants in the 3'UTR region of the gene. Sixty-six patients out of the 169 were identified as carriers of CYP21A2 mutations. Higher values of stimulated 17 hydroxyprogesterone (17-OHP) levels were found in the carriers of the p...
2017: International Journal of Endocrinology
Jennifer E Dietrich, Oluyemisi Adeyemi, Julie Hakim, Xiomara Santos, Jennifer L Bercaw-Pratt, Juan C Bournat, Ching H Chen, Carolina J Jorgez
STUDY OBJECTIVE: Paratubal cysts (PTCs) occur in 7%-10% of women, regardless of age. Although common, PTCs often are found incidentally because of the potential for these cysts to be asymptomatic. The specific aims of the study were to determine if PTC number and size correlated with signs of hyperandrogenism and obesity, as well as to investigate the molecular profiles of these PTCs in samples derived from female adolescents. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: A prospective cohort study was performed in a single children's hospital...
April 27, 2017: Journal of Pediatric and Adolescent Gynecology
D H Abbott, B H Rayome, D A Dumesic, K C Lewis, A K Edwards, K Wallen, M E Wilson, S E Appt, J E Levine
Study question: Do naturally occurring, hyperandrogenic (≥1 SD of population mean testosterone, T) female rhesus monkeys exhibit traits typical of women with polycystic ovary syndrome (PCOS)? Summary answer: Hyperandrogenic female monkeys exhibited significantly increased serum levels of androstenedione (A4), 17-hydroxyprogesterone (17-OHP), estradiol (E2), LH, antimullerian hormone (AMH), cortisol, 11-deoxycortisol and corticosterone, as well as increased uterine endometrial thickness and evidence of reduced fertility, all traits associated with PCOS...
April 1, 2017: Human Reproduction
Natalie Hecht Baldauff, Selma Feldman Witchel
PURPOSE OF REVIEW: Polycystic ovary syndrome (PCOS) is a common heterogeneous disorder that appears to have its origins during the peripubertal years. The diagnostic conundrum is that the typical clinical features, irregular menses and acne, occur during normal female puberty. Understanding the physiologic origins and molecular basis of the dysregulated hypothalamic-pituitary-gonadal axis in PCOS is fundamental to interrupting the distinctive vicious cycle of hyperandrogenism and chronic anovulation...
February 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
He Huang, Chunqing Wang, Qinjie Tian
OBJECTIVE: Phenotypic female disorders of sex development (DSD) patients with Y chromosome or Y-derived sequence have an increased risk of gonadal germ cell tumours (GCTs). The objective of the study was to evaluate tumour risk of DSD, summarize the clinical characteristics of patients with GCTs and propose management suggestions. METHODS: Medical records of 292 patients diagnosed DSD and undergoing bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016 were retrospectively reviewed...
October 13, 2016: Clinical Endocrinology
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...
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
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