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Ambiguous Genitalia

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1. Ambiguous genitalia in neonates

Ambiguous genitalia in neonates Ambiguous genitalia in neonates - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Ambiguous genitalia in neonates Last reviewed: February 2019 Last updated: December 2017 Summary Ambiguous genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders (...) that cause ambiguous genitalia are called disorders of sex development (DSD). DSD are congenital conditions that most commonly present in the newborn period. DSD can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD . Sex chromosome DSD results from the atypical complement of sex chromosomes, and includes syndromes such as Turner syndrome (45,X with one absent sex chromosome) and Klinefelter syndrome (XXY with one additional X chromosome). Mosaicism occurs when more than one type

2017 BMJ Best Practice

2. Genetic Testing Proves Crucial in Case of Ambiguous Genitalia and Renal Masses. (PubMed)

Genetic Testing Proves Crucial in Case of Ambiguous Genitalia and Renal Masses. The Denys-Drash syndrome consists of a triad of ambiguous genitalia, Wilm's tumor and nephrotic syndrome.We present a diagnostically challenging case of an XY patient with female appearance and Müllerian structures with a WT1 mutation.These genetic findings resulted in gonadal dysgenesis, end-stage renal disease, and precursor changes to Wilm's tumor in both kidneys. Genetic testing proved critical in this case

2019 Urology

3. Evaluation of ambiguous genitalia. (PubMed)

Evaluation of ambiguous genitalia. To provide a framework for the evaluation of ambiguous genitalia.The most pressing evaluation of ambiguous genitalia is assessment for life-threatening causes such as salt-wasting congenital adrenal hyperplasia (CAH) or syndromes with underlying anomalies such as neurologic or cardiac malformations. A multidisciplinary team, including specialists in Gynecology, Endocrinology, Urology, Genetics, Clinical Psychology/Psychiatry, Radiology, Nursing, Neonatology (...) , and Pediatric Surgery, should be involved. Each patient should be approached in an individualized manner to assign sex of rearing in the most expeditious yet thoughtful means possible.As knowledge on the natural history of sex preference and fertility of individuals with ambiguous genitalia increases, controversy regarding the indication for and timing of genital surgery continues. Considerations include gender identity, future fertility, malignancy risk, infection prevention, and functional anatomy

2019 Current Opinion in Obstetrics and Gynecology

4. A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity (PubMed)

A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy presenting with hypergonadotropic hypogonadism in a male (...) . However, only a handful of cases of mosaic KS have been described in the literature. The co-existence of mosaic KS with CAH due to 3β-HSD enzyme deficiency portrays a unique diagnostic paradox where features of gonadal androgen deficiency are masked by simultaneous adrenal androgen excess. Here, we report a 7-year-old phenotypic male boy who, at birth presented with ambiguous genitalia, probably a microphallus with penoscrotal hypospadias. Later on, he developed accelerated growth with advanced bone

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2018 Endocrinology, diabetes & metabolism case reports

5. Total urogenital sinus mobilization for ambiguous genitalia. (PubMed)

Total urogenital sinus mobilization for ambiguous genitalia. Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when indicated, should be performed in the most virilized cases (Prader III to V). Advances in the knowledge of genital anatomy in DSD have enabled the development and improvement of various surgical techniques. Mobilization of the urogenital sinus (MUS), first described by Peña, has (...) -56months). In all cases, surgeons recorded being satisfied with the aesthetic result of post-surgical genitalia. The family was recorded as satisfied with the aesthetic result of the genitalia after surgery. In every case, there was no need for a second surgical procedure.The total mobilization of the urogenital sinus is a feasible and safe technique. The technique permits good cosmetic results, and urinary incontinence is absent.Therapeutic study.Level III.Copyright © 2017 Elsevier Inc. All rights

2017 Journal of Pediatric Surgery

6. Recognition and assessment of atypical and ambiguous genitalia in the newborn. (PubMed)

Recognition and assessment of atypical and ambiguous genitalia in the newborn. The baby with atypical or ambiguous genitalia is usually born in secondary care. For most clinicians, this is an unfamiliar and challenging scenario with the potential for life-long ramifications arising from a consultation led by an unprepared clinician. Language needs to be used carefully with particular clarity when liaising with parents, local health professionals and the specialist multidisciplinary team (...) . Confidence in the recognition and assessment of atypical or ambiguous genitalia in a newborn will guide the local clinician when deciding on the initial investigations required and is a foundation for subsequent management. The local team have key roles in the initial support for parents as well as managing expectations at a time of great uncertainty. There are numerous different diagnoses that can result in atypical or ambiguous genitalia. The clinical findings should guide the initial investigations

2017 Archives of Disease in Childhood

7. Focal Segmental Glomerulosclerosis in a Patient with Ambiguous Genitalia: A Diagnostic Dilemma (PubMed)

Focal Segmental Glomerulosclerosis in a Patient with Ambiguous Genitalia: A Diagnostic Dilemma The renal condition referred to as focal segmental glomerulosclerosis (FSGS) presents a diagnostic dilemma for the clinician. It encompasses and displays a nonspecific histologic appearance on a kidney biopsy specimen, rather than a unique disease entity. This characteristic of FSGS often makes treatment decisions and prognostication difficult. A 34-year-old man, who was born with ambiguous genitalia

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2017 The Permanente journal

8. A Case with late onset of ambiguous genitalia (PubMed)

A Case with late onset of ambiguous genitalia Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development.In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD

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2017 International Journal of Reproductive Biomedicine

9. Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study (PubMed)

Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study Genital surgery in Disorders of Sex Development (DSD) has been an area of debate over the past 20 years. Emerging scientific evidence in the late 1990s defied the then routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few (...) patients born with ambiguous genitalia have remained unoperated into adolescence.We followed up girls with 21 hydroxylase deficiency (21- OHD) in genital morphology during childhood and acceptability among patients and parents of such an approach.Preliminary results from 7 children, aged 1-8 years (median 4.5 years), suggest that it is acceptable among patients and families to defer genital operation in 21-OHD. All patients had a Prader stage III and above. Median clitoral length at birth was 24 mm (20

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2017 International journal of pediatric endocrinology

10. A child with hypertension and ambiguous genitalia – an uncommon variant of congenital adrenal hyperplasia: a case report (PubMed)

A child with hypertension and ambiguous genitalia – an uncommon variant of congenital adrenal hyperplasia: a case report Deficiency in 11β-hydroxylase as a cause of congenital adrenal hyperplasia is uncommon. It should be considered in the differential diagnosis of hypertension with virilization in any prepubescent child.A 12-year-old Asian boy from eastern Nepal presented with pain in his abdomen and hypertension. He was raised as a male but had absent testicles since birth and had (...) our patient is underage, the condition was well explained to his parents. He was managed with steroids and antihypertensive drugs. He was on regular follow-up; after 2 years there was no hypertension but he developed true puberty with functional ovaries. He was prescribed leuprolide (gonadotropin-releasing hormone analogue), letrozole (aromatase inhibitor), and a continuation of antihypertensive drugs.This case highlights the importance of a thorough physical examination of the external genitalia

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2017 Journal of medical case reports

11. Systematization of ambiguous genitalia (PubMed)

Systematization of ambiguous genitalia Sex assignment in newborns depends on the anatomy of the external genitalia, despite this stage being the final in embryogenesis. According to the current view, the genital tubercle is the embryonic precursor of penis and clitoris. It originates from mesenchymal tissue, but mesenchymal cells are arranged across the embryonal body and do not have specific androgen receptors. The nature of the signal that initiates early derivation of the indifferent genital (...) tubercle is unknown at present. The aims of this article are to improve surgical management of intersex disorders and investigate the development of the genital tubercle. Clinical examination of 114 females with various forms of DSD revealed ambiguous (bisexual) external genitalia in 73 patients, and 51 of them underwent feminizing surgery. Intersexuality (ambiguity) in 46,XY patients results from disruptors in the pathways of sex steroid hormones or receptors; in 46,XX females arises from excessive

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2016 Organogenesis

12. A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay (PubMed)

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay 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

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2016 Cold Spring Harbor Molecular Case Studies

13. Ambiguous Genitalia

Ambiguous Genitalia Ambiguous Genitalia Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Ambiguous Genitalia Ambiguous Genitalia Aka (...) : Ambiguous Genitalia From Related Chapters II. Classification III. Evaluation History Maternal exposure to toxic agents Endogenous androgen production Physical Examination Ambiguous Genitalia Associated congenital anomalies Perineal orifice Phallic size Gonads palpable or not palpable IV. Imaging Pelvic and renal Vaginography V. Labs Karyotype 17-Hydroxyprogesterone VI. Approach Gonads not palpable, Mullerian structures present, 46XX 17 Hydroxyprogesterone Increased 21-hydoxylase Deficiency Measure

2018 FP Notebook

14. Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia (PubMed)

Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. A timely approach must be sensitive and attend to the psychosocial needs of the family. In addition, it must also effectively address the diagnostic dilemma that is frequently seen in the care of patients (...) with disorders of sex development (DSDs). One great challenge is assigning a sex of rearing, which must take into account a variety of factors including the clinical, biochemical and radiologic clues as to the etiology of the atypical genitalia (AG). However, other important aspects cannot be overlooked, and these include parental and cultural views, as well as the future outlook in terms of surgery and fertility potential. Achieving optimal outcomes requires open and transparent dialogue with the family

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2017 Translational pediatrics

15. A germ cell tumor in a patient with swyer syndrome with ambiguous genitalia (PubMed)

A germ cell tumor in a patient with swyer syndrome with ambiguous genitalia Swyer syndrome is a rare manifestation of disorders of sex development in which the individual is 46, XY in genotype but phenotypically a female. They have normal female external genitalia with under developed female internal genitalia. They usually present with primary amenorrhoea and delayed puberty but also can present with gonadal tumors in adult life.A 25-year-old Sri Lankan phenotypically female having 46 XY (...) stimulating hormone levels with normal progesterone and testosterone levels. Computerized tomography of abdomen showed a large complex mass lesion in relation to antero-medial aspect of the lower pole of the left kidney with para-aortic and left common iliac lymph nodes. The diagnostic laparoscopy confirmed the presence of internal female genitalia and the mass lesion was seen in left para-aortic region. The histology revealed a germ cell tumor compatible with a dysgerminoma.Patients with Swyer syndrome

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2015 BMC research notes

16. A newborn with ambiguous genitalia and a complex X;Y rearrangement (PubMed)

A newborn with ambiguous genitalia and a complex X;Y rearrangement In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females.Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array Comparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement resulting in the deletion of the distal Xp (...) although it is not clear the reason for the genitalia ambiguity.

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2014 Iranian Journal of Reproductive Medicine

17. Ambiguous Genitalia and Intersexuality (Follow-up)

Ambiguous Genitalia and Intersexuality (Follow-up) Disorders of Sex Development Treatment & Management: Medical Care, Surgical Care, Consultations Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTAxNTUyMC10cmVhdG1lbnQ= processing > Disorders of Sex Development Treatment & Management Updated: Jul 17, 2017 Author: Joel Hutcheson, MD; Chief Editor: Marc Cendron, MD Share Email Print Feedback Close Sections Sections Disorders of Sex Development Treatment Medical Care Medical therapy for disorders of sex development (DSDs) depends on the underlying cause and is indicated for the conditions associated with ambiguous genitalia, including congenital adrenal hyperplasia (CAH). Supplemental hormone therapy may

2014 eMedicine Pediatrics

18. Ambiguous Genitalia and Intersexuality (Overview)

Ambiguous Genitalia and Intersexuality (Overview) Disorders of Sex Development: Practice Essentials, Background, Pathophysiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTAxNTUyMC1vdmVydmlldw== processing (...) > Disorders of Sex Development Updated: Jul 17, 2017 Author: Joel Hutcheson, MD; Chief Editor: Marc Cendron, MD Share Email Print Feedback Close Sections Sections Disorders of Sex Development Overview Practice Essentials Key points in the management of disorders of sex development (DSDs) include the following: Infants born with ambiguous or abnormal genitalia may have indeterminate phenotypic sex DSDs, formerly termed intersex conditions, are classified on the basis of genetics and the state of the gonads

2014 eMedicine Pediatrics

19. Ambiguous Genitalia and Intersexuality (Diagnosis)

Ambiguous Genitalia and Intersexuality (Diagnosis) Disorders of Sex Development: Practice Essentials, Background, Pathophysiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTAxNTUyMC1vdmVydmlldw== processing (...) > Disorders of Sex Development Updated: Jul 17, 2017 Author: Joel Hutcheson, MD; Chief Editor: Marc Cendron, MD Share Email Print Feedback Close Sections Sections Disorders of Sex Development Overview Practice Essentials Key points in the management of disorders of sex development (DSDs) include the following: Infants born with ambiguous or abnormal genitalia may have indeterminate phenotypic sex DSDs, formerly termed intersex conditions, are classified on the basis of genetics and the state of the gonads

2014 eMedicine Pediatrics

20. Ambiguous Genitalia and Intersexuality (Treatment)

Ambiguous Genitalia and Intersexuality (Treatment) Disorders of Sex Development Treatment & Management: Medical Care, Surgical Care, Consultations Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTAxNTUyMC10cmVhdG1lbnQ= processing > Disorders of Sex Development Treatment & Management Updated: Jul 17, 2017 Author: Joel Hutcheson, MD; Chief Editor: Marc Cendron, MD Share Email Print Feedback Close Sections Sections Disorders of Sex Development Treatment Medical Care Medical therapy for disorders of sex development (DSDs) depends on the underlying cause and is indicated for the conditions associated with ambiguous genitalia, including congenital adrenal hyperplasia (CAH). Supplemental hormone therapy may

2014 eMedicine Pediatrics

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