Endocrine Abstracts

Introduction: Kallmann syndrome (KS) is a rare genetic disorder typically due to defective migration of olfactory-axons and GnRH-neurons. KS results in congenital hypogonadotrophic hypogonadism (CHH) typically associated with absent (anosmia) or reduced (microsmia) sense of smell. Unilateral hypoplastic/absent olfactory bulbs on MRI are reported, although disturbance in smell is usually bilateral. Here, we present an unusual case of KS with unilateral anosmia....

Introduction: Kallmann syndrome (KS) is a rare condition characterised by congenital hypogonadotropic hypogonadism (CHH), usually due to defective migration of olfactory axons and GnRH-neurons. KS is typically associated with absent (anosmia) or reduced (microsmia) sense of smell. Unilaterally hypoplastic or absent olfactory bulbs on MRI are reported, although disturbance in smell is usually bilateral. Kisspeptin is a potent stimulator of hypothalamic GnRH-neurons, and endocri...

Case history: A 25-year-old woman presented with secondary amenorrhoea present since aged 18yrs. She had spontaneous albeit late menarche aged 16yrs and five menstrual periods over the subsequent two-years, before complete menstrual cessation. She denied other medical history, psychological stress, excessive exercise, or regular medications. Notably, she reported normal sense of smell via her right nostril, but anosmia via her left nostril. Family history included a diagnosis ...

Case history: Our patient presented with primary amenorrhoea and incomplete puberty aged 15 yrs. Based on BMI >40 kg/m2 from early adolescence, clinical hyperandrogenism, family history of polycystic ovary syndrome (PCOS), and insulin resistance, she was diagnosed with PCOS and commenced on a combined oral contraceptive (COC), achieving breast development. Aged 21yrs, she was reassessed for amenorrhoea of COC. Biochemical assessment revealed hypogonadotrophic hy...

Background: Polycystic Ovary Syndrome (PCOS) and Functional Hypothalamic Amenorrhoea (FHA) are the two commonest causes of menstrual disturbance in pre-menopausal women. In practice, differentiating these two common reproductive disorders can be challenging. A fundamental abnormality that underpins both conditions is altered gonadotrophin releasing hormone (GnRH) pulsatility, being increased in PCOS but reduced in FHA. Likewise, congenital (e.g. congenital hypogonadotropic hyp...