Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome

Hurme, Timo; Lahdes-Vasama, Tuija; Mäkelä, E. Antero; Iber, Tarja; Toppari, Jorma

doi:10.1080/00365590802299247

Cited by 45 publications

(30 citation statements)

References 22 publications

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“…It is in fact often the first clinical indication of this type of DSD. These gonads have passed the first, testosterone independent stage of descent, in spite of the absence of a scrotum [Hurme et al, 2009]. However, an ovarian component (as in ovotestis) in a scrotal or inguinal gonad cannot be excluded.…”

Section: Presence Of Ovarian and Testicular Lineagesmentioning

confidence: 99%

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Spoor

Oosterhuis²,

Hersmus³

et al. 2017

Sex Dev

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Malignant gonadal germ cell tumors, referred to as germ cell cancers (GCC), occur with increased frequency in individuals who have specific types of differences (disorders) of sex development (DSD). Recent population-based studies have identified new environmental and genetic risk factors that have led to a ‘genvironment' hypothesis, which may potentially be helpful in risk assessment in DSD-related GCC. In DSD, the malignancy risk is highly heterogeneous, but recent studies allow now to discriminate between high- and low-risk conditions. Gonadal biopsy is in some cases the best procedure of choice to assess the risk, and with the availability of immunohistochemical biomarkers [OCT3/4 (POU5F1), TSPY, SOX9, FOXL2 and KITLG (SCF)], a reliable classification of GCC and its precursors can be made. The opportunities in the field of virtual diagnostic pathology will be presented, having possibilities for rare diseases in general and DSD specifically. It is expected that the International DSD Registry will stimulate international collaborations, facilitating better diagnostic procedures as well as research.

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Section: Presence Of Ovarian and Testicular Lineagesmentioning

confidence: 99%

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Spoor

Oosterhuis²,

Hersmus³

et al. 2017

Sex Dev

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“…To avoid tumorigenesis, the surgeon who plans hernia renovation for girls who especially have inguinal hernia is faced with a great task. The most critical motion, which is necessary, is to put forward a round ligament during the operation, and if it cannot be put forward, a testicular feminization differential diagnosis should be kept in mind and the patient should be provided with internal genitalia screening and karyotype analysis if necessary (Hurme 2009). In case a patient refuses a detailed examination like our patient, and because being face to face with medicolegal problems is possible, providing necessary information and counseling is critically important (Berg 2007).…”

Section: Discussionmentioning

confidence: 99%

Testicle in Inguinal Canal of a 62 Year Old Woman with Strangulated Hernia

Ay¹,

Ay²,

Turgut³

et al. 2013

IJCRM

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The presence of the male gonad in a patient who appears outwardly as a female is a hallmark of testicular feminization, where peripheral target organs are resistant to androgens. A 62-yearold woman was admitted to the hospital with a bulk in her right inguinal region complaining of pain. Due to the presence of oedematous small intestine segments, which became prolapsed from the right inguinal duct in the superficial ultrasonography of the right inguinal region, herniorrhaphy under emergency conditions was performed; after herniorrhaphy, a 1x1 cm mass was found to be stuck to a round ligament and hernia sac, and the mass was evaluated as reactive lymph node. The mass was excised and histopathological examination revealed a testicular tissue. Testicular feminization syndrome is observed in 1 out of 20.000 to 60.000 women in the general population and in between 0.8% and 2.4% of girls who have inguinal hernia. In light of this case, we agree that testicular feminization should be considered in cases of finding a bulk in the inguinal canal at every age. Additionally, to avoid medicolegal problems, providing necessary information and counseling is critically important.

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“…Bilateral inguinal herniae are rare in female infants-the incidence of complete androgen insensitivity syndrome in such patients is 1-2% during infancy. 8,9 Clinicians recommend that karyotyping or a biopsy of a gonad within the hernial sac is done after the parents give consent. 10 Alternatively, vaginal length can be measured in prepubertal girls undergoing inguinal hernia repair to screen for complete androgen in sensitivity syndrome; 9 a shortened vagina and the absence of ovaries or fallopian tubes suggests the need for karyotyping.…”

Section: Clinical Presentationmentioning

confidence: 99%

Androgen Insensitivity Syndrome (AIS)

2016

Encyclopedia of Cancer

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Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concen trations of androgens. Pathogenesis is the result of mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor-a transcription factor and member of the nuclear receptor superfamily. This Seminar describes the clinical manifestations of androgen insensitivity syndrome from infancy to adulthood, reviews the mechanism of androgen action, and shows examples of how mutations of the androgen receptor gene cause the syndrome. Management of androgen insensitivity syndrome should be undertaken by a multidisciplinary team and include gonadectomy to avoid gonad tumours in later life, appropriate sex-hormone replacement at puberty and beyond, and an emphasis on openness in disclosure.

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Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome

Cited by 45 publications

References 22 publications

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Testicle in Inguinal Canal of a 62 Year Old Woman with Strangulated Hernia

Androgen Insensitivity Syndrome (AIS)

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