primary ovarian insufficiency/seizures

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Refractory Hypoglycemia and Seizures as the Initial Presenting Manifestation of Empty Sella Syndrome.

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An empty sella is reported to occur in 5.5%-23.5% of the population and is usually asymptomatic. It can be associated with endocrine disturbances. We report a 48-year-old woman who presented with refractory hypoglycemia, seizures, and shock that improved with levothyroxine, hydrocortisone, and

Premature ovarian failure in women with epilepsy.

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OBJECTIVE Women with epilepsy (WWE) have an increased risk for several reproductive endocrine disorders that may affect their fertility. The incidence of premature ovarian failure (POF) in women with epilepsy has not been systematically studied. This study examined the incidence of POF in women with

Issues for mature women with epilepsy.

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Specific concerns regarding mature women with epilepsy (WWE), specifically epilepsy-associated issues during perimenopause, menopause, and postmenopause, have been emerging in the epilepsy community. This chapter presents evidence that for WWE, seizure frequency may increase during perimenopause and

[Epilepsy, antiepileptic drugs and disorders of reproductive functions of women].

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Epilepsy is one of the commonest chronic neurological disorders in developing countries. The disease itself and applied antiepileptic drugs cause fertility problems. As a result of seizures changes in hypothalamic and pituitary hormone secretion occur, resulting in hyperprolactinemia, menstrual

Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.

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Kör D, Şeker-Yılmaz B, Bulut FD, Kılavuz S, Öktem M, Ceylaner S, Yıldızdaş D, Önenli-Mungan N. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. Turk J Pediatr 2019; 61: 330-336. Propionic acidemia (PA) is an inherited metabolic disease caused by the deficiency of

Genomic studies in fragile X premutation carriers.

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BACKGROUND The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary

Conversion disorder in women with the FMR1 premutation.

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Women with fragile X mental retardation (FMR1) gene premutations (55-200 CGG repeats) were until recently believed to be unaffected. It is now known that up to 8% of older female FMR1 premutation carriers develop fragile X-associated tremor/ataxia syndrome (FXTAS). Female carriers may also develop

Disorders of reproduction in patients with epilepsy: primary neurological mechanisms.

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Reproductive disorders are unusually common among women and men with epilepsy. They are generally associated with and may be the consequence of reproductive endocrine disorders. Both epilepsy itself and antiepileptic drug use have been implicated in their pathophysiology. This review focuses on how

Advances in the treatment of fragile X syndrome.

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The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian

A review of trisomy X (47,XXX).

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Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly

Hormonal aspects of epilepsy.

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The relationships among hormones, epilepsy, and the medications used to treat epilepsy are complex, with tridirectional interactions that affect both men and women in various ways. Abnormalities of baseline endocrine status occur more commonly in people with epilepsy. Abnormalities are most often

Fragile X syndrome and fragile X-associated tremor ataxia syndrome.

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Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

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Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels. Furthermore, it has been established that

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