Summary 11β-hydroxylase deficiency (11βOHD) (5–7%) is an uncommon cause of congenital adrenal hyperplasia compared to 21-hydroxylase (21OHD) (90%). We report a case 5-year-old boy who presented with gonadotropin-independent precocious puberty along hypertension, generalized hyperpigmentation and hypokalemia. 17-hydroxyprogesterone came raised low stimulated cortisol. With the unavailability urinary steroid profiling serum 11-β deoxycortisol levels, we went ahead molecular analysis patient....

A twin child in early childhood presented with growth failure and multiple skeletal deformities involving both axial appendicular skeleton. They did not have any upper limb deformity, fractures, dental anomalies, mental retardation, facial coarsening or organomegaly. The initial differentials were rickets, spondylo-epiphyseal dysplasia, related dysplastic diseases renal tubular acidosis (RTA). Biochemical evaluations revealed mild normal anion gap metabolic a positive urinary prompted us to...

SGMS2 mutation can present with childhood-onset low bone mass and recurrent fragility fractures. We report a 25-year-old man three-generation family history of fractures diffuse high mass. He was found to have heterozygous frameshift variant c.1052_1074dup in the gene. Our case highlights novel genetic gene reports first

A 16-year-old boy presented with complaints of recent onset difficulty in walking, progressive diminution vision and a long-standing persistent occipital headache. Physical examination suggested cerebellar ataxia, positive signs, macrocephaly bilateral papilloedema. MRI the brain revealed mass lesion prominent striated folial pattern involving right hemisphere causing obstructive hydrocephalus. The appeared hypointense on T1 (figure 1) hyperintense T2 2) weighted images, parallel linear...

Insulin hypersensitivity—a rare occurrence with currently available insulin preparations—may have varied manifestations, ranging from a local injection site allergy to severe generalized anaphylactic reactions. While various additives included in commercial preparations and peptides themselves remain the primary allergens responsible, faulty technique may at times potentiate development of allergy. Management is complex, potentially dangerous times, can be challenging for treating physician....

Currently available glucose test strip enzymes include oxidase (GOD) and dehydrogenase (GDH). In GDH-based glucometers, oxidation can be catalysed by different cofactors: nicotinamide adenine dinucleotide (GDH-NAD), flavin (GDH-FAD), pyrroloquinolinequinone (GDH-PQQ) mutant GDH-PQQ. GOD-based GDH-NAD-based glucometers are substrate-specific do not react with sugars other than glucose. GDH-FAD reacts xylose only in addition to GDH-PQQ is glucose-specific; glucose, it produces falsely high...

Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement corneal clouding normal intelligence can be misdiagnosed as primary skeletal disorders in clinical practice. The absence urinary glycosaminoglycans (GAGs) level proportion patients makes correct diagnosis even more challenging for physicians....

A 14-year-old girl without diabetes presented with recurrent attacks of generalised tonic–clonic seizures for the past 3 years which had partially been controlled phenytoin and not sodium valproate or levetiracetam. detailed history revealed that each those episodes was probably related to spontaneous hypoglycaemia. She severely obese (body mass index: 36.54 kg/m2) acanthosis nigricans (AN), facial acne hirsutism (figure 1). During her hospital stay she developed hypoglycaemia (plasma...

A 22-year-old man, detected to have type 1 diabetes at the age of 9 years, presented with left-sided frontotemporal headache for 1 week followed by ptosis and binocular diplopia 4 days. The was deep seated his ocular complaints were insidious onset progressive in nature. On admission, he afebrile normal vitals except elevated blood pressure (160/110 mm Hg). He had complete ophthalmoplegia (palsies III, IV VI cranial nerves) along loss sensations distribution ophthalmic division left...

A 2½-year-old boy had been diagnosed with primary hypothyroidism and was referred for persistently elevated thyroid stimulating hormone (TSH) despite regular supervised administration of a high dose L-thyroxine (15 µg/kg/day) preceding 3 months. His developmental milestones (sitting support at 6 months age) were normal initially. parents then noticed progressive lethargy, sleepiness, poor feeding, constipation, hoarse cry delayed that prompted medical consultation. Thyroid function tests...

A girl aged 11½ years was referred to the endocrinology clinic with a provisional diagnosis of short stature secondary juvenile idiopathic arthritis (JIA). Born consanguineous union, she had presented her primary care physician progressive stiffness and swelling small joints hands both ankles for preceding 4 years. Her postnatal early childhood periods were uneventful normal developmental milestones. She (height SD score (SDS) −3.8 mid-parental height SDS −2.3) an upper:lower segment ratio...

A 7-year-old boy, born of a non-consanguineous union, presented with pain over both hips and progressive difficulty in walking for preceding 2 years. He had normal developmental milestones satisfactory scholastic performances his family perinatal histories were unremarkable. Clinical examination revealed short stature (height SD score (SDS): −2.3; midparental height (MPH) SDS: −1.7) upper segment (US):lower segment (LS) ratio 0.97, umbilical hernia, apical pansystolic murmur mitral...

Introduction: Hypokalemia is associated with increased morbidity and at times mortality. "Hypokalemic paralysis", particularly if recurrent, has often been considered synonymous "hypokalemic periodic paralysis (HPP)"; however, diseases such as Gitelman syndrome (GS), Bartter (BS), renal tubular acidosis (RTA) can have identical presentation. We tried to explore the etiological spectrum along epidemiological certain clinical, biochemical, electrophysiological features in patients hypokalemic...

Reversible proximal tubular dysfunction associated with distal renal acidosis (dRTA) mimics type 3 RTA, a condition classically features of both RTA (pRTA) and dRTA. Proximal tubulopathy has been reported in children primary dRTA, but the data adults are lacking.In this hospital record-based retrospective study, from 66 consecutive cases between January 2016 to December 2018, were retrieved analyzed.Mean age study population was 25.3 years (range: months 73 years). Six (9.1%) them had pRTA,...

A 57-year-old woman was referred for preoperative fitness before planned laparotomy left adrenal cystic space-occupying lesion (SOL). She had been suffering from ill-defined epigastric pain the preceding 6 months and found to have a well-defined rounded suprarenal SOL (11.6 cm×9.4 cm×9 cm) seen on abdominal ultrasonography. contrast-enhanced CT scan revealed purely (12.1 cm(CC)×11.3 cm(TR)×10 cm(AP)) with hyperdense enhancing thin wall in area non-visualisation of gland (figure 1). elevated...

Charcot foot (pied de Charcot) (CF), first described by Jean-Martin in 1868, is caused a wide variety of disorders that ultimately destroy the protective mechanisms small joints foot. Leprosy and diabetes are most common causes this form destructive neuroarthropathy developing world. Although prevalence Charcot’s (CN) <0.5% Western world (1), we believe incidence much higher our patient population India. If diagnosis missed early natural course disease, severe deformity disability,...

Viper snake bite is a threat to the Indian health system with 83 000 deaths annually. There paucity of literature regarding independent risk factors for renal damage due viper bite. We present scenario in rural part West Bengal and highlight some vital prevent complications.We screened all patients from January 2012 December 2015 Midnapore Medical College chose definite bites according our inclusion criteria, treated them as per government protocol, followed any acute kidney injury, managed...

Russell-Silver syndrome (RSS) is a rare genetic disorder characterized by intrauterine growth restriction (IUGR), postnatal failure, and distinctive dysmorphic features. We present case of four-year-old male presenting with slow velocity history IUGR surgical interventions, exhibiting classic RSS Laboratory investigations revealed low insulin-like factor 1 (IGF-1) hormone (GH) levels on stimulation tests. Clinical exome sequencing de novo mutation in the 2 (IGF2) gene. Additionally, variant...