Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2).

Context: Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. Although mutations in the estrogen receptor β gene ESR2 were found in 46, XY patients with differences of sex development, no genetic variants of ESR2 were linked to gonadal defects in women.

Settings And Patient: Here we describe a 16-year-old female patient who came to our tertiary care hospital with complete lack of estrogen action, as demonstrated by absent breast development, primary amenorrhea, and osteoporosis, resembling patients with ESR1 mutation.

A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita.

Background: X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in DAX-1 (NR0B1) playing a key role in adrenal and reproductive development.

Case Presentation: Herein we report a 2.5-year-old boy who presented with acute adrenal failure.

Frequent Occurrence of Faulty Practices, Misconceptions and Lack of Knowledge among Hypothyroid Patients.

Introduction: Hypothyroidism is a common endocrine disorder with a reported prevalence of 4%-10%. Previous studies have reported significant gaps in the basic knowledge about the condition in hypothyroid patients. It has also been observed that faulty practices prevail among these patients.

Comparison of electrochemical skin conductance and vibration perception threshold measurement in the detection of early diabetic neuropathy.

The early diagnosis of diabetic peripheral neuropathy (DPN) is challenging. Sudomotor dysfunction is one of the earliest detectable abnormalities in DPN. The present study aimed to determine the diagnostic performance of the electrochemical skin conductance (ESC) test in detecting early DPN, compared with the vibration perception threshold (VPT) test and diabetic neuropathy symptom (DNS) score, using the modified neuropathy disability score (NDS) as the reference standard.

High prevalence of organ specific autoantibodies in Indian type 1 diabetic patients.

Background: Type 1 diabetes (T1D) is frequently associated with other autoimmune conditions such as autoimmune thyroiditis, coeliac disease (CD) and Addison's disease. There are sparse data on the prevalence of antibodies against these conditions in Indian patients with T1D. This study aims to evaluate prevalence of these T1D associated autoantibodies in Indian patients.