Diagnosis and Treatment > Signs and Symptoms
Search for other papers by Usman Javaid in
Google Scholar
PubMed
Search for other papers by Vikram Lal in
Google Scholar
PubMed
Search for other papers by Catherine Napier in
Google Scholar
PubMed
Search for other papers by Alison Burbridge in
Google Scholar
PubMed
Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne, UK
Search for other papers by Richard Quinton in
Google Scholar
PubMed
Hypogonadal men may experience intense vasomotor symptoms, and vasomotor sweating can occasionally be associated with profound fluid losses. We describe a 37-year-old male, who exhibited persistent hypovolaemic hypernatraemia that was challenging to treat despite a continuous high fluid input (>4–5 L/day). He was noted to have drenching sweats and normochromic anaemia. He had recent traumatic head injury, which resulted in neurocognitive dysfunction, so pituitary function tests were done which showed primary hypogonadism. After exclusion of all other possible causes of excess sweating, hypernatraemia and anaemia, a trial of testosterone therapy was instituted. Sweating dramatically ceased within hours of his first testosterone injection, hydration status normalised within days and anaemia and neurocognitive function progressively improved with continued testosterone replacement. This case demonstrates how, in a susceptible individual, hypovolaemic hypernatraemia can arise from insensible cutaneous fluid loss through eccrine sweating, mediated by vasomotor symptoms of untreated hypogonadism. Although this scenario has not been described in the literature, we felt it needed to be shared with the wider medical community because of how the diagnosis and treatment utterly transformed this patient’s functional status and outcome.
Learning points:
-
Hypogonadal men may experience intense vasomotor symptoms and vasomotor sweating can occasionally be associated with profound fluid losses.
-
Whether or not there is also hyperosmolar hypernatraemia, clinicians should always consider the possibility of underlying hypogonadism in men with normocytic anaemia and excessive sweating.
-
Androgen (testosterone) replacement in hypogonadal men can have a dramatic effect on vasomotor sweating and hot flushes.
ANZAC Research Institute, University of Sydney, Sydney, New South Wales, Australia
Search for other papers by Nandini Shankara Narayana in
Google Scholar
PubMed
Search for other papers by Anne-Maree Kean in
Google Scholar
PubMed
Central Clinical School, Sydney Medical School, University of Sydney, New South Wales, Australia
Search for other papers by Lisa Ewans in
Google Scholar
PubMed
Search for other papers by Thomas Ohnesorg in
Google Scholar
PubMed
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
Search for other papers by Katie L Ayers in
Google Scholar
PubMed
Search for other papers by Geoff Watson in
Google Scholar
PubMed
Search for other papers by Arthur Vasilaras in
Google Scholar
PubMed
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
Search for other papers by Andrew H Sinclair in
Google Scholar
PubMed
Search for other papers by Stephen M Twigg in
Google Scholar
PubMed
Search for other papers by David J Handelsman in
Google Scholar
PubMed
Summary
46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal.
Learning points:
-
In mammals, the early gonad is bipotent and can differentiate into either a testis or an ovary. SRY is the master switch in testis determination, responsible for differentiation of the bipotent gonad into testis.
-
SRY activates SOX9 gene, SOX9 as a transcription factor is the second major gene involved in male sex determination. SOX9 drives the proliferation of Sertoli cells and activates AMH/MIS repressing the ovary. SOX9 is sufficient to induce testis formation and can substitute for SRY function.
-
Assessing karyotype and then determination of the presence or absence of Mullerian structures are necessary serial investigations in any case of DSD, except for mixed gonadal dysgenesis identified by karyotype alone.
-
Treatment is ideal in a multidisciplinary setting with considerations to genetic (implications to family and reproductive recurrence risk), psychological aspects (sensitive individualized counseling including patient gender identity and preference), endocrinological (hormone replacement), surgical (cosmetic, prophylactic gonadectomy) fertility preservation and reproductive opportunities and metabolic health (cardiovascular and bones).
Search for other papers by K Majumdar in
Google Scholar
PubMed
Search for other papers by M Barnard in
Google Scholar
PubMed
Search for other papers by S Ramachandra in
Google Scholar
PubMed
Search for other papers by M Berovic in
Google Scholar
PubMed
Search for other papers by M Powell in
Google Scholar
PubMed
Summary
Tuberculosis (TB) is an important cause of mortality and morbidity across the world. In 2–5% of all cases of systemic TB, the C is affected, with lesions reported in the meninges, cortex and ventricles. Intrasellar tuberculomas, however, are extremely rare. We report the interesting case of a young female patient who presented with secondary hypothyroidism and hyperprolactinaemia. She was treated successfully for pituitary TB. We also highlight and discuss some interesting (and hitherto unreported) endocrine issues. Radiological and histological features and treatment of pituitary TB are discussed using this case as an example.
Learning points
-
Intrasellar TB continues to be a rare presentation, but incidence and prevalence are expected to grow with increasing numbers of multidrug-resistant TB and shrinking geographical boundaries across the world.
-
Pituitary TB can present with features of a typical adenoma, but has certain radiological and histological features that help to differentiate from an adenoma.
-
Patients can present with a variety of endocrine abnormalities at different times.
-
The presence of an intrasellar mass in individuals at a high risk of developing TB, or with a previous history of systemic TB, should prompt the diagnosis of pituitary TB. In such individuals, it may be worth considering a trial of anti-tuberculous therapy, before considering surgery.
