Surgical options in disorders of sex development (dsd) with ambiguous genitalia

Vidal, Isabelle; Gorduza, Daniela; Haraux, Élodie; Chatelain, Pierre; Nicolino, Marc; Mure, Pierre-Yves; Mouriquand, Pierre

doi:10.1016/j.beem.2009.10.004

Cited by 76 publications

(29 citation statements)

References 55 publications

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“…DSD surgery includes 4 main components [98]: (1) surgery of the genital tubercle which can be reduced in size (clitoroplasty) or reconstructed (hypospadias repair or phalloplasty; fig. 2, 3, 4); (2) the management of the Müllerian structures (vagina, uterus) which includes the connection of a vaginal cavity to the pelvic floor, vaginal substitution, dilatation of a vaginal cupule or removal of Müllerian remnants; (3) surgery of the gonads involves descent (orchiopexy), removal (tumor risk/late virilization) or biopsy for pathology or the preservation for reproduction, and (4) refashioning of the perineum (perineoplasty).…”

Section: Surgical Issuesmentioning

confidence: 99%

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

et al. 2016

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The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since knowledge and viewpoints change. An effort was made to include representatives from a broad perspective including support and advocacy groups. The goal of patient care is focused upon the best possible quality of life (QoL). The field of DSD is continuously developing. An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed. Topics include biochemical and genetic assessment, the risk of germ cell tumor development, approaches to psychosocial and psychosexual well-being and an update on support groups. Open and on-going communication with patients and parents must involve full disclosure, with the recognition that, while DSD conditions are life-long, enhancement of the best possible outcome improves QoL. The evolution of diagnosis and care continues, while it is still impossible to predict gender development in an individual case with certainty. Such decisions and decisions regarding surgery during infancy that alters external genital anatomy or removes germ cells continue to carry risk.

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Section: Surgical Issuesmentioning

confidence: 99%

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

et al. 2016

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“…Dihydrotestosterone, the hormone that is usually deficient, may be administered percutaneously (10). Surgical procedures include surgeries of micropenis, hypospadias, undescended testicle, and bifid scrotum (11). Lower levels of DHT in patients with 5-alpha reductase deficiency results in a more viscous as well as decreased volume of semen during ejaculation.…”

Section: Discussionmentioning

confidence: 99%

5-Alpha Reductase Deficiency: A Review of Five Cases Diagnosed with Ambiguous Genitalia

Tuzcu¹,

Soylu²,

Tuzcu³

et al. 2017

Turk J Endocrinol Metab

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5-alpha reductase is an enzyme which is responsible for the conversion of testosterone to dihydrotestosterone (DHT) in the peripheral tissues. It plays a key role in the development of male external genitalia. The present study was carried to make a clinical presentation of ve male patients diagnosed with 5-alpha reductase deciency resulting in the developmental disorder of male sexuality as well as to draw attention to the patients' medical history, physical examination and laboratory features. A test group comprising of ve male subjects previously diagnosed with 5-alpha reductase deciency after being hospitalized and a series of examinations between April 2007 and July 2014, were enrolled in the study. Physical examination, hormonal proles, radiological n-dings and karyotype analyses of the patients were carried out and their previous medical history was recorded. All the patients with karyotype 46 XY were raised as a female. They had external genitalia similar to each other and expressed a lower level of DHT. The patients with a disorder of male sex development, who expressed lower levels of dihydrotestosterone, must be checked for 5-alpha reductase deciency. Keywords: 5-alpha reductase deciency, dihydrotestosterone, ambiguous genitalia Dihidrotestosteron (DHT) periferik dokularda testosterondan 5-alfa redüktaz enzimiyle oluşmaktadır. Erkek dış genitalyasının gelişiminde anahtar role sahiptir. Bu çalışmanın amacı, cinsel gelişim bozukluğu nedeniyle kliniğimize yatırılan 5-alfa redüktaz eksikliği tanısı konulmuş olan 5 erkek hastanın klinik durumlarını paylaşmak ve nadir görülen bu hastalığın anamnez, zik muayene, laboratuar özelliklerine dikkat çekmektir. Nisan 2007-Temmuz 2014 tarihleri arasında erkek cinsel gelişim bozukluğu ön tanısıyla yatırılan ve yapılan değerlendirilmeler sonrasında 5-alfa redüktaz eksikliği tanısı konulmuş 5 erkek vaka çalışmaya alınmıştır. Hastaların geçmiş dosyalarından öyküleri, zik muayene özel-likleri, hormon prolleri, radyolojik görüntüleri ve karyotip analiz raporlarına bakıldı. Hastaların hepsi kız çocuk olarak yetiştirilmişti. Tüm hastaların karyotipi 46 XY idi. Dış genital yapıları benzerdi. Bütün hastaların DHT dü-zeyleri düşüktü. Erkek cinsel gelişim bozukluğu olan hastalarda dihidrotestosteron düşük bulunursa 5-alfa redüktaz eksikliği düşünülmelidir. Anahtar kelimeler: 5-alfa redüktaz eksikliği, dihidrotestosteron, ambigus genitalya

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“…11 It is now recognised that CAH patients should be managed by a multidisciplinary team in designated centres and the corrective surgery may be undertaken at an early age. 1,12,13 Once a decision has been reached regarding the sex of rearing by the medical team and the parents/ legal guardian, corrective surgery can be planned. Clearly, if the clinical findings are favourable to divert surgical intervention-as illustrated in one of our patients-only regular review may be required (Fig).…”

Section: Discussionmentioning

confidence: 99%

Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital

Tsui

Mou

et al. 2014

Hong Kong Med J

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Objectives: To present the results of feminising genitoplasty done in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Design: Case series.Setting: A tertiary referral centre in Hong Kong.Patients: Female patients with congenital adrenal hyperplasia undergoing corrective surgery for virilisation between 1993 and 2012. Main outcome measures:The operative result was judged with a scoring system (1-3) for four areas: appearance of clitoris, labia and vagina, plus requirement for revision surgery.Results: A total of 23 female patients with congenital adrenal hyperplasia with a median age of 17.5 (range, 1.5-33.8) years were identified. Of these individuals, 17 presented in the neonatal period and early infancy, of which four had an additional salt-losing crisis. Six patients-including four migrants from mainland China-were late presenters at a median age of 2 (range, 0.5-14) years. Twenty-two patients had corrective surgery at a median age of 2 (range, 1-14) years. Clitoral reduction was performed in all, and further surgery in 21 patients. The additional surgery was flap vaginoplasty in 10 patients, a modified Passerini procedure in six, and a labial reconstruction in five; one patient with prominent clitoris was for observation only. Minor revision surgery (eg mucosal trimming) was required in three patients; a revision

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Surgical options in disorders of sex development (dsd) with ambiguous genitalia

Cited by 76 publications

References 55 publications

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

5-Alpha Reductase Deficiency: A Review of Five Cases Diagnosed with Ambiguous Genitalia

Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital

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