Dominant transmission of imperforate hymen

Stelling, J.; Gray, Mark R.; Davis, Ann J.; Cowan, Janet M.; Reindollar, Richard H.

doi:10.1016/s0015-0282(00)01599-5

Cited by 48 publications

(33 citation statements)

References 6 publications

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“…Imperforate hymen is reported at an approximate rate of 0.1% and occurs due to the incomplete canalization of the Mullerian and the urogenital system [6]. Collection of blood in the vagina (hematocolpos) is a rare gynaecological abnormality that results from imperforate hymen.…”

Section: Discussionmentioning

confidence: 99%

Acute urinary retention in a female adolescent

Mendoza-Paredes¹,

Pierre²

2013

IJCRI

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Introduction: Acute urinary retention requires timely evaluation and management in order to prevent damage to the kidneys and urinary tract. Case Report: An 11yearold female child came to the emergency department complaining of abdominal pain for three days and oliguria with dysuria for the last 24 hours. Physical examination showed a palpable mass in lower abdomen up to umbilical level and a bulging mass in the introitus. A Foley catheter was inserted, draining 500 mL of urine with relief of the abdominal pain. After emptying the bladder, a residual mass was palpated. Renal ultrasound showed no abnormalities and pelvic ultrasound demonstrated a large homogeneous echogenic mass in the lower uterine region, diagnosed as hematocolpos. Further surgical hymenectomy resolved patient's symptoms. Conclusion: Acute urinary retention is relatively infrequent in children. Hematocolpos is a rare gynaecological abnormality that results from imperforate hymen. Retained blood in the vagina can cause compression of the urethra and consequent urinary retention. Hematometrocolpos is another rare cause of acute urinary retention. In the evaluation of a premenarchal adolescent

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Section: Discussionmentioning

confidence: 99%

Acute urinary retention in a female adolescent

Mendoza-Paredes¹,

Pierre²

2013

IJCRI

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“…Fréquence: L'imperforation de l'hymen est une pathologie rare [2][3][4][5]. Le caractère familial exceptionnel de cette malformation rapporté par Stelling aux Etats-Unis [5] et par Usta au Liban [6] n'a pas été retrouvé chez les 4 patientes que nous avons suivies.…”

Section: Discussionunclassified

“…Le caractère familial exceptionnel de cette malformation rapporté par Stelling aux Etats-Unis [5] et par Usta au Liban [6] n'a pas été retrouvé chez les 4 patientes que nous avons suivies. L'hématocolpos, conséquence de cette affection et qui est observé à l'adolescence est également rare [2][3][4].…”

Section: Discussionunclassified

Hymen imperforé: diagnostic négligé à la naissance, urgence chirurgicale a l'adolescence

Redaktion¹

2003

Swiss Med Forum

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L'imperforation de l'hymen (IH) est une malformation dont le diagnostic est facile, même dans les pays à faible couverture sanitaire. Méconnue, elle s'exprime à la puberté par un hématocolpos, qui nécessite une intervention chirurgicale. Cette situation, qui aurait pu être évitée par un examen morphologique complet du nouveau-né dès la naissance, a été retrouvée chez 4 patientes que nous avons enregistrées de 1995 à 2001 au Complexe Pédiatrique et à l'Hôpital Communautaire de Bangui (Centrafrique).

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“…McIlroy and Ward [66] as well as Usta et al [67] have described cases of affected siblings suggesting an autosomal recessive inheritance. Stelling et al [68] described a family of concordant monozygotic twins with one of the twins having an affected daughter suggesting an autosomal dominant inheritance. Some rare syndromes have been described which are characterized by imperforate hymen.…”

Section: Imperforate Hymenmentioning

confidence: 99%

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

Owen¹,

JH²

2013

J Genet Syndr Gene Ther

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Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. As endometrial function is critical for successful implantation and pregnancy maintenance, these recent data suggest a target for gene therapy. Future research will be needed to determine if gene therapy may improve reproductive outcomes for patients with demonstrated deficient endometrial expression related to abnormal gene expression.

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Dominant transmission of imperforate hymen

Cited by 48 publications

References 6 publications

Acute urinary retention in a female adolescent

Acute urinary retention in a female adolescent

Hymen imperforé: diagnostic négligé à la naissance, urgence chirurgicale a l'adolescence

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

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