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Conference/Presentation Title: | A case of familial primary adrenal insufficiency, impaired spermatogenesis and hypogonadotropic hypogonadism. | Authors: | Wood A.;Yeung A.;Fuller P. | Monash Health Department(s): | Genetics Endocrinology |
Institution: | (Wood, Fuller) Endocrinology, Monash Medical Centre, Clayton, VIC, Australia (Yeung) Department of Clinical Genetics, Monash Medical Centre, Clayton, VIC, Australia (Yeung) Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia (Fuller) Centre for Endocrinology and Metabolism, Hudson Institute, Clayton, VIC, Australia | Presentation/Conference Date: | 18-Jul-2018 | Copyright year: | 2018 | Publisher: | Blackwell Publishing Ltd | Publication information: | Clinical Endocrinology. Conference: Endocrine Society of Australia Annual Scientific Meeting 2017. Perth, WA Australia. 89 (Supplement 1) (pp 83), 2018. Date of Publication: June 2018. | Abstract: | VN was born to non-consanguineous parents of Indonesian descent. They gave birth to two sons who were both hyperpigmented at birth and passed away at a young age in Indonesia. VN's parents emigrated to Australia prior to his birth and at birth, VN was hyperpigmented. Investigations revealed biochemistry consistent with primary adrenal insufficiency (PAI). He was commenced on hydrocortisone and fludrocortisone. Six years after VN's birth, his parents had another son, also noted to be hyperpigmented, diagnosed with PAI, and managed similarly. VN was born with normal genitalia and at age 12, was pre-pubertal and commenced andriol 40 mg daily. In response, he developed stage 3-4 pubic hair and his voice deepened. His testes remained small and soft although they did increase in size to 6 mL. Andriol was ceased after 6 months, in the hope that spontaneous puberty would occur. However, this did not progress and at age 13 he commenced Sustanon 100 mg monthly. As an adult, he reached a height of 161.7 cm tall, with his weight fluctuating from 73 to 120 kg (BMI 27-49 kg/m2). He is normally virilised with slightly small testicles (10 mL bilaterally). Given his family history, targeted genetic testing was performed, specifically, DAX-1, on the short arm of the X chromosome associated with the X-linked form of PAI-was sequenced. He was found to have a missense mutation in the DAX-1 gene, being hemizygous in exon 2 for a sequence variant c. 1274G>C predicted to result in the amino acid substitution of arginine for a threonine at position 425. He remains on hydrocortisone 20 mg mane, 10 mg nocte, fludrocortisone 300 mcg daily and Reandron 1 g/4 mL 3 monthly. He is working as an IT specialist, is single, sexually active, reports good libido and is not currently seeking fertility. | Conference Start Date: | 2017-08-27 | Conference End Date: | 2017-08-30 | ISSN: | 1365-2265 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/38013 | Type: | Conference Abstract | Type of Clinical Study or Trial: | Case series or case report |
Appears in Collections: | Conferences |
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