Article Text
PDF
Statistics from Altmetric.com
Description
A man aged 20 years presented with complaints of small penile size and absence of both testes in his scrotum. The same was documented at birth but no intervention was done ever since. He was tallest in the family and had two normal siblings. He had poor development of secondary sexual characters. He also had history of anosmia since childhood. His arm span was more than his height by 8 cm and the upper:lower segment ratio of his body was 0.76 (normal >0.9) suggesting a eunuchoid habitus. He had micropenis and both the testes were not palpable in the scrotum or inguinal canal (figure 1). On further examination, he had asymmetric bimanual synkinesia (video 1). He had no other neurological features.
Image of the patient showing micropenis and poorly developed scrotum.
Video showing asymmetrical bimanual synkinesia, initially on the right followed by left.
His baseline hormonal evaluation revealed a total testosterone of 19.5 ng/dL with undetectable luteinising hormone (LH) levels, while other anterior pituitary hormones were normal (including free T4, cortisol, prolactin). His peak LH was 0.49 mIU/mL after a 500 μg leuprolide stimulation test. Ultrasonography (USG) showed both the testes in the inguinal canal, right measuring 1.4/0.5 cm and left was 1.4/0.7 cm. No renal abnormality was found in USG. His audiometry was normal. Coronal T2-weighted MRI of the brain showed hypoplastic right olfactory sulcus and olfactory bulb. The left olfactory sulcus was absent (figure 2). He was diagnosed with Kallmann’s syndrome.
High-resolution coronal T2-weighted MRI of the patient showing hypoplastic olfactory bulbs in both the side (horizontal arrows). The right olfactory sulcus is hypoplastic (coloured vertical arrow). Olfactory sulcus is absent on left side (white vertical arrow).
Bimanual synkinesia, also known as mirror movement, is a classic neurological finding in patients with Kallmann’s syndrome, particularly the X linked variety, which is associated with KAL-1 mutation.1 However, it can also be found in acquired disorders like stroke, parkinsonism or dystonic disorders. It has been hypothesised that abnormal neurological circuit or functional alteration in planning and execution is responsible for this mirror movement.2 Although mirror movement may not be present always, it should be looked for in hypogonadal men. If present, mirror movement can serve as an important clinical clue for diagnosis of Kallmann’s syndrome.
Learning points
Kallmann’s syndrome is characterised by the association of congenital hypogonadotropic hypogonadism and anosmia or hyposmia.
Bimanual synkinesia is a very important clinical clue to identify Kallmann’s syndrome as the aetiology of hypogonadism.
Absent or hypoplastic olfactory sulcus and bulbs is a key radiological pointer towards Kallmann’s syndrome.
Footnotes
Contributors AR did drafting of manuscript, acquisition of Videoimage and clinical care of the patient. SK and JPS revised the manuscript, provided intellectual content and conceptualised the report and also clinical care of the patient. RA selected and interpreted MRI image, provided intellectual content.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Obtained.