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1.
Article in English | WPRIM (Western Pacific) | ID: wpr-1003689

ABSTRACT

@#Primary growth hormone (GH) resistance or growth hormone insensitivity syndrome, also called Laron syndrome, is a hereditary disease caused by mutations in the GH receptor or in the post-receptor signaling pathway. This disorder is characterized by postnatal growth failure resembling GH deficiency. Differentiating the two conditions is necessary. We present the cases of two siblings, a 16-year-old female and a 9-year-old male, born from a consanguineous union. Both had normal birth weights with subsequent severe short stature and delayed teeth eruption, with no features suggestive of any systemic illness. Serum insulin-like growth factor 1 (IGF1) and insulin-like growth factor binding protein 3 (IGFBP3) were both low. Suspecting GH deficiency, provocative testing with clonidine was done revealing peak growth hormone >40 ng/mL in both patients. In view of low IGF1 and IGFBP3 and high GH on stimulation, IGF1 generation test was done for both siblings, with values supporting the diagnosis of GH insensitivity or Laron syndrome.


Subject(s)
Laron Syndrome
2.
Article in English | WPRIM (Western Pacific) | ID: wpr-984399

ABSTRACT

@#Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but typical Mullerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-year-old patient with Swyer syndrome presenting with primary amenorrhoea and with previous diagnosis four years earlier of a malignant dysgerminoma in the right ovary.


Subject(s)
Gonadal Dysgenesis, 46,XY , Dysgerminoma , Gonadal Dysgenesis
3.
Article in English | WPRIM (Western Pacific) | ID: wpr-961885

ABSTRACT

@#Coronavirus Disease 2019 (COVID-19) is an emerging disease and since its first identification in Wuhan, China, in December 2019, there has been a rapid increase in cases and deaths across the world. COVID-19 has been shown to have an immense impact in infected persons with diabetes, worsening their outcome, especially in elderly, smokers, obese, those having CVD, CKD, poor glycemic control and long duration of diabetes. In this review we summarize the current understanding of `the impact of COVID-19 on diabetes and discusses the pathophysiological mechanisms and management of diabetes and its complication in this scenario.


Subject(s)
COVID-19 , Diabetes Mellitus
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