As a result of the age-related decline in reproductive function, during perimenopausal and postmenopausal periods female patients experience an estrogen deficiency state. Due to this state, symptoms deficiency, which are combined into concept “climacteric syndrome”, begin manifest. Climacteric syndrome is complex vegetative-vascular, mental, metabolic-endocrine disorders that develop women not ...

Cytochrome P450 oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those observed in the Antley-Bixler syndrome.

Copper deficiency is a rare cause of pancytopenia that may be mistaken for myelodysplastic syndrome. Cytoplasmic vacuolization in erythroid and myeloid precursors is found on bone marrow examination. Patients with a history of abdominal surgery who present with anemia and neutropenia with dysplastic changes should have copper levels checked.

Traumatic brain injury (TBI), typically resulting from vehicle accidents or acts of violence, is a major public health concern. Survivors often face lifelong impairments affecting functional status, memory, cognition, language, and mood, as well as physical functioning and metabolism. Within the past three years, a clear cause and effect has been established – post TBI hormonal deficiency syndr...

Traditionally, clinical conditions synonymous with the ageing male included cardiovascular disease (CVD), type 2 diabetes mellitus (DM) and sexual dysfunction, and were widely regarded as independent clinical entities. Over the last decade, interrelationship of clinical conditions has been convincingly demonstrated. Declining testosterone levels in the elderly, once regarded as an academic endo...

OBJECTIVE To determine the clinico-demographic features and laboratory parameters of children with severe combined immunodeficiency (SCID). STUDY DESIGN Case series. PLACE AND DURATION OF STUDY Department of Paediatrics and Child Health, the Aga Khan University, Karachi, from July 2006 to July 2011. METHODOLOGY Thirteen infants who were discharged with a diagnosis of SCID were inducted in...

The mismatch repair (MMR) machinery contributes to genome integrity and the MLH1, MSH2, MSH6 and PMS2 genes play a crucial role in this process. MMR corrects single base-pair mismatches and small insertion-deletion loops that arise during replication. Moreover, the MMR system is involved in the cellular response to a variety of agents that damage DNA and in immunoglobulin class switch recombina...

Werner (WRN) helicase belongs to the RECQL class of DNA helicases. Mutation in leads premature aging syndrome, syndrome (WS), and predisposition multiple cancers. WS patients exhibit heightened incidence neoplasia, e.g., soft tissue sarcoma, osteosarcoma, malignant melanoma, meningioma, thyroid cancer, breast leukemias. Extensive research on WRN has revealed its important diverse roles repair p...

Congenital hereditary non-conjugate hyperbilirubinemias include Gilbert’s syndrome, Crigler-Najjar type 1 and 2 syndromes (or Arias’ disease). They are caused by a deficiency of the enzyme - bilirubinuridine-5’-diphosphate glucuronosyltransferase (UGT1A1), involved in glucuronization bilirubin. The is due to mutations UGT1A1 gene, which provides activity. Complete or almost complete loss (Crigl...