Poster Abstract Abstract

(Paediatric), #220518141602

X-linked Congenital Adrenal Hypoplasia: A case report

Banumathy Ramakrishnan, Hospital Putrajaya; Nalini M Selveindran, Hospital Putrajaya; Janet Yeow Hua Yong, Hospital Putrajaya

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Introduction

Adrenal hypoplasia congenita is a rare disease. It is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Approximately 60% of affected males experience acute infantile onset while remaining 40% are childhood onset. NR0B1/DAX1 plays a pivotal role in the development and function of the adrenal and reproductive axes. Loss of NR0B1/DAX1’s inhibitory property due to NR0B1 mutations was demonstrated to be responsible for the pathology of X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH).

Methods

We present a 15 years old boy who was initially referred to us at 1 year old when he presented with adrenal crisis. He was treated empirically with Hydrocortisone, Fludrocortisone and sodium supplementation whereby it was weaned off after infancy.

Results

Synacthen test showed poor adrenal response with peak cortisol of <30 nmol/L, low 17OHP with ACTH levels of 9.7 pmol/L, suggestive of pimary adrenal Insufficiency. During the course of follow-up he was noted to have delayed puberty .Physical examination showed no dysmorphism, blood pressure normotensive, Tanner Staging was prepubertal with AH1PH1 and testicular volume of 2mls bilaterally. Stretched penile length was 5cm with width of 1.5 cm (<10th centile). LHRH stimulation test confirmed HH, after which IM Testosterone commenced. Genetic testing revealed a pathogenic mutation in the NR0B1 gene. (NP_000466.2:p.Ser175ValfsTer14) Hemizygous

Conclusion

In conclusion, we report a patient with adrenal hypoplasia congenita novel mutation with NR0B1/ DAX-1 gene. Early diagnosis is important for long-term treatment in terms of endocrine and reproductive function and genetic counseling, the possibility of a NROB1/ DAX- 1 mutation must be considered in male patients with adrenal insufficiency.

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