Endocrine Abstracts

A 35 year old woman was referred to Endocrinology after imaging investigating unexplained pyrexia demonstrated an absent uterus. She was of Pakistani origin and was born phenotypically female with reported normal female genitalia. During late teenage years she experienced virilisation with deepening voice, increased pubic and axillary hair and clitoromegaly. She had absent breast development. Her parents were first cousins and siblings were unaffected. Investigations in Pakist...

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without a clear genetic aetiology. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated transcriptional regulator, which plays an essential role in neuronal maturation. It is encoded by the MECP2 gene, located at chromosome Xq28, which is highly expressed in brain tissues. Loss-of-function mutations in MECP2 are usually associa...

Objectives: THRA mutations cause Resistance to Thyroid Hormone α (RTHα), an underdiagnosed disorder with hypothyroid features but near-normal thyroid function tests (TFTs). We developed a pathway, combining molecular analyses, new biomarkers and physiological measurements, to better diagnose and treat this disorder.Methods: Structural and functional analyses of THRA variants, discovered by next generation sequencing in specifi...