Publications by authors named "Dirk Jan Pot"

3 Publications

  • Page 1 of 1

[Transverse testicular ectopia confirmed by ultrasonography].

Ned Tijdschr Geneeskd 2010 ;154:A155

Gelre Ziekenhuizen, Afd Radiologie, Apeldoorn, The Netherlands.

Two newborn boys aged 2 and 3 months with unilateral inguinal hernia and a contralateral impalpable, non-scrotal testis, and a third boy aged 2.5 years with an impalpable non-scrotal testis were found to have transverse testicular ectopia. This is an uncommon abnormality in which both gonads migrate toward the same hemiscrotum. We illustrate that unilateral cryptorchidism and a contralateral inguinal hernia may indicate the presence of a rare type of male pseudohermaphroditism: persistent müllerian duct syndrome (PMDS). This syndrome is characterized by the presence of a uterus and fallopian tubes associated with abdominal testes and frequently inguinal hernia in a phenotypically and genotypically normal male. This syndrome is often discovered during repair of inguinal hernia or non-descended testes (cryptorchidism). Pre-operative ultrasonography in children with impalpable non-scrotal testis and a contralateral inguinal hernia (patent processus vaginalis) may enable an early diagnosis of transverse testicular ectopia and proper surgical planning. Surgical orchidopexy was carried out and in the first two patients resection of the müllerian duct remnant (utriculus masculinus).
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March 2010

Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review.

Eur J Pediatr 2004 Nov 6;163(11):664-70. Epub 2004 Aug 6.

Department of Paediatrics, St. Franciscus Gasthuis and Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands,

Unlabelled: Congenital analbuminaemia was diagnosed in a small-for-gestational-age neonate presenting with placental and body oedema, an unusual presentation of this rare autosomal recessive disorder. A review of 39 reported cases in the literature shows that the clinical symptoms are always remarkably mild and that the diagnosis is rarely made in infancy. The absence of albumin appears to be partly counterbalanced by high levels of non-albumin proteins and circulatory adaptations. However, congenital analbuminemia can have important complications: lipodystrophy and hypercholesterolaemia, possibly leading to atherosclerosis. Other possible complications reported in literature are hypercoagulability, osteoporosis, respiratory tract infections, intrauterine growth retardation and intrauterine death. Moreover, albumin-binding drugs should be used with caution.

Conclusion: Congenital analbuminaemia is a rare disorder with remarkably mild signs and symptoms at all ages. Although often thought to be innocent, this disorder may have important clinical complications.
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November 2004