Perrault Syndrome: A Rare Cause of Primary Amenorrhoea
Journal Title: Indian Journal of Genetics and Molecular Research - Year 2017, Vol 6, Issue 1
Abstract
Perrault syndrome is an autosomal recessive disorder with sensorineural hearing loss in both female and male, and gonadal dysgenesis in female only. We present here a case which presented to our gynae department with complain of primary amenorrhoea. She was congenitally deaf and mute, born out of non consanguinous marriage. She had delayed developmental milestones. On examination she had delayed pubertal development with normal external genitalia. Pelvic sonogram showed hypoplastic uterus with streak gonad. Hormonal tests revealed hypergonadotrophichypogonadism (raised FSH with low estradiol). Karyotype was normal (46 XX). Audiology showed profound bilateral sensorineural hearing loss. MRI brain showed demyelination in deep white matter and periventricular region of parietal and occipital lobes.
Authors and Affiliations
Nitisha Lath
Keywords
Related Articles
- EP ID EP462365
- DOI 10.21088/ijgmr.2319.4782.6117.4
- Views 104
- Downloads 0
Maple Syrup Urine Disease - Role of Next Generation Sequencing, A Newer Molecular Technique
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branchedchain -ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAA) in plasma, ...
Genetics of Obesity
Obesity is defined as Body Mass Index (BMI) of more than 95th percentile for age and sex. It is on rise and affecting not only people in developed countries but also those in developing and modernizing countries. Obesoge...
Incidence and Type of Abnormal Karyotype in Foetuses with Major Congenital Malformations Detected on Prenatal Ultrasound
Introduction: Structural fetal abnormalities occur in approximately 2-3% of all pregnancies, prenatal diagnosis, karyotyping is considered the gold standard because of its greater diagnostic accuracy to identify structur...
Study of Lipase Amylase Ratio in Acute Pancreatitis
Aim: The aim of our study was to estimate serum Amylase and serum Lipase levels and to establish a correlation between Lipase/Amylase Ratio in Acute Pancreatitis using lipase and Amylase as enzymatic markers. Study Desig...
Non-Synonymous Exonic Mutations and Polymorphism of BRD2 Gene in Juvenile Myoclonic Epilepsy
Background: Juvenile myoclonic epilepsies (JME) have a complex genetic disease and involved different susceptible idiopathic generalized epilepsy (IGE) genes in JME patients. JME inheritance is autosomal dominant in all...