Partial gonadal
dysgenesis (PGD), one of the 46,XY disorders of sex development (DSD) [1], is a rare disorder characterized by sex ambiguity due to variable degrees of testicular
dysgenesis in individuals without a syndromic picture who have a normal male karyotype.
Fibroepithelial bladder polyp and renal tubular
dysgenesis: an unusual cause of third-trimester oligohydramnios.
Thus, our data do not support the hypothesis of shared inheritability of the disorders described under testicular
dysgenesis syndrome." (ANI)
Dear Sir: I read with interest the in the article by Mahomed and Naidoo in the August 2009 issue of SAJR (1) of two exceptional cases of spinal segmental
dysgenesis.
(1) The histogenesis of paraganglioma of the spermatic cord is an enigma, though it has been speculated that paraganglionic nests in the spermatic cord may be secondary to
dysgenesis during embryogenesis.
Acromegaly, Lawrence-Seip syndrome, gonadal
dysgenesis, Klinefelter syndrome, Turner syndrome, and Prader-Willi syndrome are among those conditions that can contribute.
An MRI may be indicated in some children, although these often come back with a nondescript finding such as "cerebral
dysgenesis."
Based on the findings of the published reports, it appears three patterns of abnormalities are associated with maternal parvovirus B19 infection: positional limb deformities, radiographic evidence of intercranial calcifications, and dysplastic changes, including agyria, macrogyria, polymicrogyria, and
dysgenesis of the corpus callosum, he said.
HME may occur as an isolated disease or as a part of Proteus syndrome, neurofibromatosis, linear sebaceous nevus syndrome, tuberous sclerosis complex, or Klippel-Weber-Trenaunay syndrome.2 The typical characteristics of isolated hemimegalencephaly (iHME) include ipsilateral severe cortical dysplasia or
dysgenesis, white matter hypertrophy and a dilated and dysmorphic lateral ventricle.3 This asymmetric and enlarged brain tissue is associated with intractable seizures, developmental delay, contralateral hemiparesis, and hemianopia.4 Because there is no cure for iHME, the principal aim of the treatment of this disease is to control seizures, which is done by using a variety of anti-epileptic drugs.4
These findings indicate that gonadal
dysgenesis should be considered in this differential diagnosis.
(11) The cause for thyroid
dysgenesis is due to gene transcription factors T1TF-1, Foxe1 and PAX-8.
In humans, these disorders are thought to comprise a "testicular
dysgenesis syndrome" (TDS) (Skakkebaek et al.