RESUMEN
Kallmann syndrome (KS)/Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by hypogonadotropic hypogonadism and anosmia or hyposmia due to the abnormal migration of olfactory and gonadotropin releasing hormone producing neurons. Multiple genes have been implicated in KS/IHH. Sequential testing of these genes utilising Sanger sequencing is time consuming and not cost effective. The introduction of parallel multigene panel sequencing of small gene panels for the identification of causative gene variants has been shown to be a robust tool in the clinical setting. Utilizing multiplex PCR for the four gene KS/IHH panel followed by NGS, we describe herewith two cases of hypogonadotropic hypogonadism with a Prokineticin receptor 2 (PROKR2) gene and KAL1 gene mutation. The subject with a PROKR2 mutation had a normal perception of smell and normal olfactory bulbs on imaging. The subject with a KAL1 gene mutation had anosmia and a hypoplastic olfactory bulb.
RESUMEN
OBJECTIVES: Osteoporosis continues to be underrecognized in many parts of India. This study was undertaken to assess the level of knowledge of osteoporosis among postmenopausal women referred for a dual-energy X-ray absorptiometry (DXA) scan in a teaching hospital in southern India. METHODOLOGY: This cross-sectional study assessed the state of awareness in consecutive postmenopausal women referred for a DXA scan using a validated questionnaire - Osteoporosis Knowledge Assessment Tool. The proportion of correct responses was expressed as percentages. The mean scores obtained were also compared between different educational groups. RESULTS: A total of 302 consecutive postmenopausal women who were referred for DXA participated in this study. The mean (standard deviation) age of the postmenopausal women included in this study was 58.8 (6) years. Although most subjects were aware of the consequences of osteoporosis, there was generalized lack of awareness with regard to risk factors and available treatment options. Overall about 60% had poor awareness about osteoporosis. CONCLUSION: This study showed a gross deficit in awareness of osteoporosis in Indian postmenopausal women. There is a need to prioritize on designing appropriate awareness campaigns in subjects at risk, according to their level of literacy.
RESUMEN
Lingual thyroid is an abnormal mass of ectopic thyroid tissue seen in the base of tongue caused due to aberrant embryological development. It is often asymptomatic but may cause local symptoms, such as dysphagia, dysphonia, and upper airway obstruction. In this case, we report a 13-year-old girl who presented with dysphagia and breathing difficulty. Local examination revealed thyroid tissue in the posterior aspect of the tongue. Thyroid scintigraphy showed abnormal tracer uptake at base of tongue. Hormonal test showed subclinical hypothyroidism. She was treated with Levothyroxine.