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ambiguous genitalia

Alisa L Rich, Laura M Phipps, Sweta Tiwari, Hemanth Rudraraju, Philip O Dokpesi
An increasing number of children are born with intersex variation (IV; ambiguous genitalia/hermaphrodite, pseudohermaphroditism, etc.). Evidence shows that endocrine-disrupting chemicals (EDCs) in the environment can cause reproductive variation through dysregulation of normal reproductive tissue differentiation, growth, and maturation if the fetus is exposed to EDCs during critical developmental times in utero. Animal studies support fish and reptile embryos exhibited IV and sex reversal when exposed to EDCs...
2016: Environmental Health Insights
C R Bonarriba Beltrán, L Fernández, D Alonso, F García-Montes
No abstract text is available yet for this article.
September 2016: Archivos Españoles de Urología
Ulku Mete Ural, Serdar Ceylaner
No abstract text is available yet for this article.
August 2016: Taiwanese Journal of Obstetrics & Gynecology
L Tang, L Q Qiu, Kkw Yau, Y V Hui, C W Binns, A H Lee
INTRODUCTION: Higher than normal sex ratios at birth in China have been reported since the early 1980's. This study aimed to investigate recent trends in sex ratio at birth in Hangzhou, capital of Zhejiang Province in southeast China. METHODS: Information on selected maternal and birth-related characteristics was extracted from the Hangzhou Birth Information Database for all pregnant women who delivered live births during 2005-2014. The sex ratios at birth were calculated after excluding infants with missing data on gender and those born with ambiguous genitalia...
December 2015: Tap Chi Y Te Cong Cong
Joanna Lazier, Nicole Martin, James Dimitrios Stavropoulos, David Chitayat
Maternal uniparental disomy of chromosome 6 [upd(6)mat] is rare and has only been previously reported 13 times with the main associated phenotype being IUGR. We present a case of a male patient with isodisomy upd(6)mat resulting in severe IUGR and ambiguous genitalia, a phenotype not previously described in association with this chromosome finding. The patient initially presented prenatally with IUGR at 19 weeks gestation with placental dysfunction and ambiguous genitalia noted at 27 weeks. Postnatally, the patient had external genital abnormalities, the gonads were in the inguinal canal and there was a rudimentary appearing vagina and uterus...
August 8, 2016: American Journal of Medical Genetics. Part A
Zograb Makiyan
No abstract text is available yet for this article.
July 8, 2016: Organogenesis
Vasiliki Koika, Anastasia K Armeni, Neoklis A Georgopoulos
CASE PRESENTATION: A 36-year old man, operated on for cryptorchidism at the age of 8 years, was referred to the Outpatient Clinic of Reproductive Endocrinology for investigation of infertility. Clinical examination revealed ambiguous genitalia: penis 4-5 cm, testicular volume 2-3 ml, hypospadias, hypertrophic foreskin and scrotum bifida. Mild hypertension was confirmed. No skeletal malformations were detected. DESIGN: Hormonal and electrolytic determinations as well as semen analysis were conducted...
April 2016: Hormones: International Journal of Endocrinology and Metabolism
Pattaranatcha Charnwichai, Patra Yeetong, Kanya Suphapeetiporn, Vichit Supornsilchai, Taninee Sahakitrungruang, Vorasuk Shotelersuk
BACKGROUND: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency (11β-OHD) is a rare form of CAH associated with low renin hypertension, hypokalemia, hyperandrogenemia and ambiguous genitalia in affected females. Herein we describe the clinical, hormonal and molecular characteristics of two Uzbekistan siblings with 11β-OHD and analyze the effects of a splicing mutation. CASE PRESENTATION: A 46,XX girl presented with genital ambiguity and low renin hypertension; her 46,XY brother presented with precocious puberty...
2016: BMC Endocrine Disorders
Agata Szpera-Goździewicz, Mariola Ropacka-Lesiak, Paweł Rzymski, Grzegorz H Bręborowicz
The aim of the study was to present a case of Smith-Lemli-Opitz syndrome (SLOS) in a fetus of a 33-year-old patient. At 31 weeks of gestation, the following fetal malformations were detected on an ultrasound: atrioventricular septal defect (AVSD), aortic coarctation, shortening of the lower limbs, narrow forehead, hyperthelorism, micrognathia, anteverted nares, ambiguous genitalia, and signs of intrauterine growth restriction. The baby died 11 days after birth. Further genetic screening of the parents revealed the 7-DHCR enzyme mutation in both of them...
2016: Ginekologia Polska
Azam Ghanei, Golnaz Mohammadzade, Ehsan Zarepur, Sedigheh Soheilikhah
BACKGROUND: Congenital adrenal hyperplasia (CAH) and vanishing testes are uncommon diseases that can result from hormonal and mechanical factors. Classic CAH is determined by ambiguous genitalia and increase in amount of 17-Hydroxyprogesterone. Simultaneous occurrence of CAH and vanishing testes is a rare condition. CASE: A 22-year-old boy, known case of CAH who was diagnosed as female pseudohermaphroditism due to ambiguous genitalia, was referred to Shahid Sadoughi Hospital, Yazd, Iran with colicky abdominal pain and hematuria...
March 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
Rakesh Mondal, Somosri Ray, Kaushani Chatterjee, Tapas Kumar Sabui, Avijit Hazra, Suman Das, Jasodhara Chaudhuri, Archan Sil, Moumita Samanta
OBJECTIVES: To measure Penile length (PL) and Testicular volume (TV) in newborn boys for assessing genital abnormalities. METHODS: In a tertiary care setting, measurements of PL and TV were recorded from 480 babies born on alternate days except the weekend, at 24 to 72 h of life by one investigator with the same set of instruments. The penis was stretched to the point of increased resistance and the distance from the tip of the glans penis to the pubic ramus was measured as the stretched PL...
June 8, 2016: Indian Journal of Pediatrics
Wen-Jiao Zhu, Tong Cheng, Hui Zhu, Bing Han, Meng-Xia Fan, Ting Gu, Shuang-Xia Zhao, Yang Liu, Kai-Xiang Cheng, Huai-Dong Song, Jie Qiao
BACKGROUND: Aromatase deficiency is a rare autosomal recessive disorder that is caused by an impairment of androgen conversion to estrogens. Affected 46, XX individuals generally present with virilization of external genitalia at birth and mutations in CYP19A1 gene. OBJECTIVE: This study described the clinical features and molecular basis of a Chinese 46, XX girl born with ambiguous genitalia and investigated the functional alteration of two novel mutations of the CYP19A1 gene...
September 15, 2016: Molecular and Cellular Endocrinology
Mabel Yau, Ahmed Khattab, Dix Poppas, Lucia Ghizzoni, Maria New
Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular genetic analysis is used to confirm the hormonal diagnosis. A high rate of genotype-phenotype disconcordance has been found in 21-hydroxylase deficiency. The goal of treatment is to replace with synthetic glucocorticoids and mineralocorticoids and suppress adrenal androgen production...
2016: Frontiers of Hormone Research
Chauhan Vasundhera, Viveka P Jyotsna, Devasenathipathy Kandasamy, Nandita Gupta
BACKGROUND AND OBJECTIVES: 46 XY disorders of sexual development (DSD) cover a wide spectrum of phenotypes ranging from unambiguous female genitalia to ambiguous male genitalia with hypospadias or dysgenetic gonads. Management of these patients depends on the cause of DSD, degree of feminization, age at presentation, and gender orientation. The aim of this study was to evaluate the presentation and management of patients with 46XY DSD at our center. PATIENTS AND METHODS: All new and old patients of 46XY DSD attending the endocrine OPD in a period of 16 months were included in this study...
May 2016: Indian Journal of Endocrinology and Metabolism
Kate Davies
No abstract text is available yet for this article.
July 2016: Journal of Pediatric Nursing
Shabbir Hussain
Neonatal Bartter syndrome (NBS) is an autosomal recessive renal tubulopathy characterized by hypokalaemic, hypochloraemic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninaemia and hyperaldosteronaemia but normotension. Congenital adrenal hyperplasia (CAH), another autosomal recessive condition, may present in the neonatal period with vomiting, hypovolaemia, failure to gain weight or ambiguous genitalia. We report a case of NBS and CAH combination in a neonate...
May 2016: JPMA. the Journal of the Pakistan Medical Association
Rakesh Mondal, Kaushani Chatterjee, Moumita Samanta, Avijit Hazra, Somosri Ray, Tapas Kumar Sabui, Basanta Banerjee, Suman Das, Dibyendu Roychowdhury, Rupa Biswas
OBJECTIVE: To generate normative data on clitoris length, anogenital distance and anogenital ratio in Indian newborns. DESIGN: Cross-sectional study. SETTING: Neonatal unit of a tertiary care teaching hospital in Kolkata. PARTICIPANTS: 378 female neonates, who were hemo-dynamically stable without critical illness or chromosomal anomaly, and without any vulval hematoma or genital abnormalities. INTERVENTIONS: Measurements were recorded using a digital vernier caliper between 24-72 hours...
April 2016: Indian Pediatrics
Ayşegül Ozantürk, Erica E Davis, Aniko Sabo, Marjan M Weiss, Donna Muzny, Shannon Dugan-Perez, Erik A Sistermans, Richard A Gibbs, Köksal R Özgül, Dilek Yalnızoglu, Esra Serdaroglu, Ali Dursun, Nicholas Katsanis
Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, intellectual disability, and speech delay. Through quad-based whole-exome sequencing and concomitant molecular cytogenetic testing, we identified two copy-number variants (CNVs) in both affected individuals likely arising from a balanced translocation: a 13...
March 2016: Cold Spring Harbor Molecular Case Studies
H Tuhan, A Anik, G Catli, H Onay, A Aykut, A Abaci, E Bober
Steroidogenic factor-1 (SF-1), also known as nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of orphan receptor subfamily and located on chromosome 9 (9q33). In 46, XY individuals with mutation of SF-1 gene, adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus, infertility can occur from severe to mild. We report a case of a 20-day-old male who is admitted to our clinic due to ambiguous genitalia. In this report, we describe a novel heterozygous c...
May 2, 2016: Andrologia
Fatih Gurbuz, Serdar Ceylaner, Seyda Erdogan, Ali Kemal Topaloglu, Bilgin Yuksel
The Sertoli cell only syndrome (SCOS) is a rare genetic disorder with a variable phenotype ranging from a severe ambiguous genitalia to a normal male phenotype with infertility. SCOS is diagnosed on testicular histopathology as germ cells are absent without histological impairment of Sertoli or Leydig cells. The SRY positive XX male syndrome is usually diagnosed in adulthood during infertility investigations. Here, we report a rare case of 46,XX maleness with ambiguous genitalia due to Sertoli cell only syndrome (SCOS)...
July 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
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