SFEBES2023 Poster Presentations Reproductive Endocrinology (42 abstracts)
Kallmann syndrome with unilateral anosmia
Jovanna Tsoutsouki 1 , Alexander N Comninos 1,2 , Maria Phylactou 1,2 , Pei Chia Eng 1 , Bijal Patel 1 , Manish Modi 1 , Megan Young 1 , Deborah Papadopoulou 1 , Sasha R Howard 3 , Waljit S Dhillo 1,2 & Ali Abbara 1,2
1Section of Investigative Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College School of Medicine, Imperial College London, London, United Kingdom. 2Department of Diabetes and Endocrinology, Imperial College Healthcare NHS trust, London, United Kingdom. 3Department of Paediatric Endocrinology, Queen Mary University of London, London, United Kingdom
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.
Case Presentation: A woman presented to the endocrine clinic for management of KS aged 18yrs. Her mother and sister were known to have KS (FGFR1-mutation) having presented with primary amenorrhoea and anosmia. Her mother conceived following ovulation induction. At presentation, she had normal secondary sexual characteristics, and had undergone spontaneous menarche aged 16yrs. Over the preceding two years, she had five menstrual periods followed by secondary amenorrhoea. Unusually, she reported a normal sense of smell via her right nostril, but complete anosmia via the left nostril. MRI-brain revealed unilateral absence of the left olfactory nerve, bulb and sulcus. She had no other medical history, normal BMI (22 kg/m2), didn’t report excessive stress or exercise, and took no regular medications. She had an undetectable oestradiol (<100 pmol/l), low LH (0.2 IU/l) and FSH (0.4 IU/l). Pelvic-ultrasound demonstrated a thin endometrium (3mm), consistent with a hypoestrogenic state. After 100mg GnRH-test, she had a normal rise in LH of 24.82 IU/l. After a kisspeptin challenge-test, she had a subnormal early rise in LH of 3.43 IU/l.
Discussion: This lady had spontaneous puberty and menarche indicating some residual GnRH neuronal functionality. Further, she had a small early subnormal gonadotropin response to kisspeptin, rather than the absent response typically observed in complete KS. This, and in keeping with her unilateral anosmia, unilateral olfactory bulb on MRI, suggest that she has an unusual partial/unilateral GnRH-neuronal deficiency.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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