Rare coexistence of hypopituitarism with osteogenesis imperfecta - A double-trouble for bone.

Osteogenesis imperfecta (OI) commonly involving defects in COL1A1 and COL1A2 is a rare hereditary disease of bone fragility affecting 6-7 per 100,000 population. On the other hand, hypopituitarism is a separate entity that manifests with reduced levels of pituitary hormones. The cooccurrence of these two is seldom reported previously in literature as a deviation from Occam's razor. Here, we reported a case of pathological fracture in a 31-year-old male who had blue sclera and secondary adrenal insufficiency, hypogonadotropic hypogonadism, and growth hormone deficiency along with primary autoimmune hypothyroidism. Diagnosis of OI was suggested by heterozygous missense variant in exon 40 of the COL1A2 gene (chr7: g.94423092G > A; Depth: 99×) that resulted in the amino acid substitution of Serine for Glycine at codon 847. Replacement of glucocorticoid, levothyroxine, and testosterone was started along with antiresorptive therapy for better bone health outcomes.

Hypersomatotropism induced secondary polycythaemia leading to spontaneous pituitary apoplexy resulting in cure of acromegaly and remission of polycythaemia: 'The virtuous circle'.

A young man with subtle clinical features suggestive of hypersomatotropism presented with acute-onset severe headache. Relevant investigations confirmed polycythaemia and growth hormone (GH)-secreting pituitary macroadenoma with apoplexy. Secondary polycythaemia and myeloproliferative disorders were ruled out. At follow-up after 3 months, resolution of polycythaemia and acromegaly was observed, evident on normal haemoglobin levels, a normocellular marrow, and normal insulin-like growth factor-1 (IGF-1) with glucose-suppressed GH levels. Direct mitogenic properties of GH-IGF-1 axis on bone marrow progenitor cells may very rarely lead to erythroid hyperplasia and subsequent polycythaemia, reversible with successful therapy of acromegaly. In this case, polycythaemia secondary to hypersomatotropism likely resulted in pituitary apoplexy with subsequent remission of both acromegaly and resultant polycythaemia.

Digital Gangrene an Unusual Presentation of Takayasu's Arteritis.

CONTEXT: Takayasu arteritis (TA) is a chronic inflammatory disease involving large vessels like aorta and its major branches. It presents to clinician with features of arm claudication, stroke, asymmetrical pulse, or asymmetrical blood pressure in both limbs. Digital gangrene may be occurred secondary to various systemic diseases like diabetes, thrombophilic states, vascular embolism, and medium and small vessel vasculitis or infections. Through evaluation to diagnose the exact etiology and timely intervention is needed to prevent progression of the gangrene which at the time can be life-threatening. Digital gangrene as an initial presentation in TA is very rare. In medical literature, there are only few case reports have been reported. CASE REPORT: We are reporting a case of a 26-year-old female patient presented with right little finger and index finger gangrene, ultimately diagnosed as TA and responded dramatically to treatment. CONCLUSION: Though rare, TA should be taken in the differential diagnosis for work up in a case of digital gangrene and it necessitates more studies in this field to uncover the exact pathophysiology for such presentation.