Mary Jo Harrod

Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias

Abstract Two 46 XY siblings with familial incomplete male pseudohermaphroditism, Type 2, inherited as an apparent autosomal recessive trait, were investigated. The phenotype was distinctive in that male wolffian-duct structures (epididymis, vas deferens and seminal vesicles) were present whereas tissues derived from the urogenital sinus and from the anlage of the external genitalia were female in character. Studies of estrogen and androgen dynamics revealed normal male blood testosterone and estrogen levels, production rates and interconversions. The normal blood luteinizing hormone level and normal estrogen production rate suggest that androgen resistance in this syndrome is different from that in other androgen-resistant states. The demonstration of markedly deficient dihydrotestosterone formation in slices of perineal skin, epididymis and phallus, considered with the fact that dihydrotestosterone is the fetal hormone responsible for male differentiation of the external genitalia, is compatible with the...

Congenital Absence of the Vagina: The Mayer-Rokitansky-Kuster-Hauser Syndrome

We describe 14 patients with congenital absence of the vagina associated with a variable abnormality of the uterus and review the literature. Associated developmental anomalies of the urinary tract and skeleton are common. As a result of the analysis of two affected families, we believe that the disorder may represent the variable manifestation of a single underlying genetic defect that can be expressed alone or in any combination of vertebral, renal, and genital abnormalities. Some affected persons may have lethal manifestations such as absence of both kidneys, and some cases may result from multifactoral causes rather than a single gene defect. Whatever the cause, the defect involves mesodermal development and the mesonephric kidney, the latter resulting in abnormalities in the paramesonephros (uterus and vagina) and in the metanephric kidney. Both nonoperative and surgical treatments are generally successful in repairing the vaginal abnormality.

Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.

Abstract A family with incomplete male pseudohermaphroditism inherited as an apparent X-linked recessive trait was investigated. The phenotype in 11 affected family members ranged from a minimal de...

Methotrexate and reproduction in men: Case report and recommendations

Methotrexate has been used in the treatment of recalcitrant psoriasis for more than 35 years. We examined the significance of impaired spermatogenesis in a young man undergoing methotrexate treatment for severe psoriasis with associated arthritis. A medical geneticist was consulted and a review of the literature was performed. Genetic abnormalities that could lead to mutagenesis include chromosomal abnormalities and single-gene mutations. These aspects are considered and recommendations are made for counseling men undergoing methotrexate therapy so that risks and options can be considered.

α‐L‐iduronidase deficiency and possible Hurler‐Scheie genetic compound Clinical, pathologic, and biochemical findings

The enzymatic delineation of the mucopolysaccharidoses has revealed that certain syndromes, although phenotypically distinct, share the same enzymatic defect. Patients with the classic Hurler and Scheie syndromes or other phenotypic variations of these two disorders have a deficiency of α-L-iduronidase. We are reporting a patient with α-L-iduronidase deficiency whose phenotypic abnormalities did not resemble either the Hurler or Scheie syndrome and who may have had either the Hurler-Scheie genetic compound described by McKusick or an allelic disorder. Our patient was a 25-year-old woman whose initial presentation was due to acute paranola and who was subsequently found to have many morphologic, neurologic, radiographic, and neuropathologic findings consistent with a mucopolysaccharide disorder. To our knowledge, complete neuropathologic findings have not been previously described in this hybrid group of patients. A distinctive feature of this patients illness is that the underlying disorder was not clinically apparent until adulthood, but presented with severe bony abnormalities of the skull and deposition of mucopolysaccharides in the meninges.

Fryns syndrome: prenatal diagnosis and pathologic correlation.

The patient is a 20 year old gravida 2 para 1 Hispanicwoman who was referred for ultrasonographic eval-uation because of uterine size less than expected fordates. Her previous child is healthy. She was in anonconsanguineous relationship.Antenatal ultrasonography revealed fetal biomet-ric data consistent with a 16 week singleton gesta-tion. The amount of amniotic fluid was normal.Multiple fetal anomalies were noted, including scalpand hand edema with redundant skin and bilateralcystic hygromas extending along the spine (Fig. 1). Adiaphragmatic hernia was noted with dextropositionof the heart secondary to mass effect. The stomachwas in the fetal thorax (Fig. 2). The kidneys wereechogenic (Fig. 3). Amniocentesis was performed,which subsequently documented a normal femalekaryotype. Amniotic fluid alpha-fetoprotein levelswere normal.A follow-up ultrasonogram was obtained 3 weekslater, after the final results of the amniocentesis wereavailable. Fetal growth as assessed with biometricswas now consistent with an 18 week gestation. Againthe diaphragmatic hernia, echogenic kidneys, andcystic hygroma were noted. The amniotic fluid vol-ume was now low normal with the largest pocketmeasuring 38 mm. At this time cardiac evaluationwas performed and a small aortic outflow tract, smallleft ventricle, mediastinal shift, and ventriculoseptal

Familial pseudomembranous colitis and its relation to lincomycin therapy

Severe pseudomembranous colitis was observed in 3 members of a single family: the father and 2 of his children. 2 of the affected family members received the antibiotic lincomycin prior to the onset of their symptoms. The findings in this family raise the possibility that antibiotic-induced pseudomembranous colitis in some patients may be the result of a pharmacogenetic interaction.