Endocrine Abstracts

Introduction: Lipohypertrophy is by far the most common skin-related complication of insulin therapy. Less common dermatological complications of insulin injections include lipoatrophy, localized allergic reaction, subcutaneous abscess, localized amyloidosis and hyperpigmentation of the skin at the site of injection. We describe the Koebner phenomenon in an insulin requiring type 2 diabetic patient during a psoriasis flare-up.Case report: A 56-year old w...

A 26-year-old Chinese male with autism spectrum disorder and mental retardation, was referred to start insulin therapy for uncontrolled diabetes mellitus (DM) (HbA1c: 9%; C-peptide: 1.75 ng/ml; anti-GAD AB: negative) treated with oral antidiabetic drugs since 2012.Clinical examination revealed a tall man with overweight and truncal obesity in light of his ethnicity. We withheld facial dysmorphism with hypertelorism, scarce facial hair, and clinodactyly. ...

Background: There are increasing number of reports on immune checkpoint inhibitors induced adverse events including hypophysitis. Hypophysitis tends to occur more with CytotoxicT-lymphocyte-associated protein 4 inhibitors (12-15% of cases) which is a different entity compared to those associated to anti-program death 1 (anti-PD1) inhibitors.Aim: We describe a case of pembrolizumab-associated hypophysitis and conduct a discussion based on a systematic rev...

Background: chromosome 22q11.2 deletion syndrome has been reported to occur in about 1 per 347 to 992 fetuses.1 Patients present with velocardiofacial syndrome (VCFS) or DiGeorge syndrome (DS). Hypocalcemia has been reported to occur in up to 80.4% of cases.2Case report: a 28-year-old man, known with autism spectrum disorder (ASD), presented at the emergency department (ED) for muscle cramps. Medical history included chronic myeloid leukemia treated with...

Background: Chromosome 22q11.2 deletion syndrome has been reported in about 1 per 347 to 992 living births. Hypocalcemia occurs in up to 80.4% of cases.Case description: A 28-year-old man, known with autism spectrum disorder (ASD), presented at the emergency department (ED) for limbs muscle cramps. Medical history included chronic myeloid leukemia treated with tyrosine kinase inhibitor (TKI) the last 10 years, gastric bypass and recurrent fractures due t...

A 41-year-old woman presented with a puffy face since five months. She experienced alopecia, hirsutism, easy bruisability, amenorrhea and proximal muscle weakness. Clinical examination revealed a moonface, centripetal obesity, proximal muscle atrophy, thinned scalp hair, hyperpigmentation in sun-exposed neck region, ecchymosis and arterial hypertension grade 1. Blood analysis showed elevated morning cortisol, elevated morning ACTH of 66.1 pg/ml (normal 10–60), hypokalemic...

A 41-year-old woman presented with a puffy face since five months. She experienced alopecia, hirsutism, easy bruisability, amenorrhea and proximal muscle weakness. Clinical examination revealed a moonface, centripetal obesity, proximal muscle atrophy, thinned scalp hair, hyperpigmentation in sun-exposed neck region, ecchymosis and arterial hypertension grade 1. Blood analysis showed elevated morning cortisol, elevated morning ACTH of 66.1 pg/ml (normal 10–60), hypokalemic...

Introduction: Bardet-Biedl syndrome (BBS) is an autosomal recessive, monogenic syndrome of obesity, with an estimated prevalence of 1:160.000. BBS is caused by mutations in one of the twenty-six genes that play a role in the function of primary cilia (1). Early-onset obesity, post-axial polydactyly, retinitis pigmentosa, renal or genitourinary abnormalities, learning disabilities and hypogonadism are considered primary features. Diabetes, speech deficit, heari...