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A case of premature ovarian failure in a 33-year-old woman.

Colao E, Granata T, Vismara MF, Bombardiere F, Nocera D, Luciano E, Perrotti N, Malatesta P - Case Rep Genet (2013)

Bottom Line: Result(s).Turner-like diagnosis.Conclusion(s).

View Article: PubMed Central - PubMed

Affiliation: Medical Genetics Unit, University Hospital "Policlinico Mater Domini", Magna Graecia University at Catanzaro, Viale Europa, Campus Salvatore Venuta, 88100 Catanzaro, Italy.

ABSTRACT
Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure. Design. Case report. Setting. medical genetics diagnostic unit in a university hospital. Patient. A 33-year-old woman with premature ovarian failure (POF). Intervention(s). Genetic counseling, karyotyping, FISH study. Result(s). Turner-like diagnosis. Conclusion(s). Most cases of POF remain idiopathic. Turner syndrome can occur in very different phenotypes; cytogenetic and molecular profiling can provide a definitive diagnosis in cases with nonclassical phenotype.

No MeSH data available.


Related in: MedlinePlus

Pedigree of the patient: I, 1: deceased woman, 70 y.o., cardiac pathology I, 2: deceased man, 70 y.o., Parkinson's disease I, 3: deceased woman, 70 y.o., Type II diabetes II, 4: multinodular goitre.
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fig1: Pedigree of the patient: I, 1: deceased woman, 70 y.o., cardiac pathology I, 2: deceased man, 70 y.o., Parkinson's disease I, 3: deceased woman, 70 y.o., Type II diabetes II, 4: multinodular goitre.

Mentions: The patient was also affected by autoimmune thyroiditis, treated with levotiroxin. Ten years earlier (2002) the patient received a diagnosis of lactotrophic microadenoma (PRL 125 ng/dL); brain MRI “dubious small area of enhancement in the lower right paramedian pituitary” and was treated with different dosages of cabergoline. This treatment was suspended in august 2010. In 2011 a brain MRI was substantially unmodified compared with with the previous one. In addition the patient reported myopia and arthralgia since she was 15 years old Family history showed familiarity for thyroid, neurological cardiovascular diseases (see pedigree: Figure 1).


A case of premature ovarian failure in a 33-year-old woman.

Colao E, Granata T, Vismara MF, Bombardiere F, Nocera D, Luciano E, Perrotti N, Malatesta P - Case Rep Genet (2013)

Pedigree of the patient: I, 1: deceased woman, 70 y.o., cardiac pathology I, 2: deceased man, 70 y.o., Parkinson's disease I, 3: deceased woman, 70 y.o., Type II diabetes II, 4: multinodular goitre.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3569886&req=5

fig1: Pedigree of the patient: I, 1: deceased woman, 70 y.o., cardiac pathology I, 2: deceased man, 70 y.o., Parkinson's disease I, 3: deceased woman, 70 y.o., Type II diabetes II, 4: multinodular goitre.
Mentions: The patient was also affected by autoimmune thyroiditis, treated with levotiroxin. Ten years earlier (2002) the patient received a diagnosis of lactotrophic microadenoma (PRL 125 ng/dL); brain MRI “dubious small area of enhancement in the lower right paramedian pituitary” and was treated with different dosages of cabergoline. This treatment was suspended in august 2010. In 2011 a brain MRI was substantially unmodified compared with with the previous one. In addition the patient reported myopia and arthralgia since she was 15 years old Family history showed familiarity for thyroid, neurological cardiovascular diseases (see pedigree: Figure 1).

Bottom Line: Result(s).Turner-like diagnosis.Conclusion(s).

View Article: PubMed Central - PubMed

Affiliation: Medical Genetics Unit, University Hospital "Policlinico Mater Domini", Magna Graecia University at Catanzaro, Viale Europa, Campus Salvatore Venuta, 88100 Catanzaro, Italy.

ABSTRACT
Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure. Design. Case report. Setting. medical genetics diagnostic unit in a university hospital. Patient. A 33-year-old woman with premature ovarian failure (POF). Intervention(s). Genetic counseling, karyotyping, FISH study. Result(s). Turner-like diagnosis. Conclusion(s). Most cases of POF remain idiopathic. Turner syndrome can occur in very different phenotypes; cytogenetic and molecular profiling can provide a definitive diagnosis in cases with nonclassical phenotype.

No MeSH data available.


Related in: MedlinePlus