IMPE Abstracts

Introduction: CAH secondary to 11 beta hydroxylase deficiency accounts for approximately only 5% of cases. Its incidence in general population is estimated as 1 in 250,000 to 1 in 100,000. It is caused by mutation in CYP11B1 gene located on chromosome 8q24, which is responsible for hydroxylation of 11-deoxycortisol to cortisol, so levels of corticotrophin precursors become elevated and shunted towards androgen biosynthesis which leads to ambiguous genitalia in females and postnatal virilization in males and females. Deoxycoticosterone has mineralocorticoid activity so 65% of patients develops hypertension in later stages of life.

Case Report: We present a case of 3 years old male, resident of Karachi presented in our paeds endocrine department at NICH hospital with increase in penile size since 8 months of life. The child was developmentally normal with no dysmorphic features and hyperpigmentation and having anthropometric measurements at +2SDS. The parents were very much anxious about his adolescence phallus size. On genital examination tanner staging was III, stretched penile length was 6cm, bilateral testicular volume was 4ml approximately, and color of scrotum was dark brown. His hormonal assessment showed, 17-OH-Progesterone 7.29ng/ml (Pre-pbuertal 0.03-0.90ng/ml), Serum testosterone 25.70ng/dl (Pre-pubertal 2-25ng/dl), Plasma ACTH 175pg/ml (male: ND -46pg/ml), serum aldosterone 1.41ng/dl (< 40ng/dl supine, < 124 ng/ dl upright), serum cortisol 1.50 mg/dl (Am 5.27-22.45ug/dl), plasma renin < 0.5uIU/ml (28-39.9uIU/ml), LH 0.46mIU/ml (Follicular phase 2.58-12.1mIU/ml), and FSH<0.3mIU/ml(Follicular phase 1.98-11.6). Bone age was advanced. Serum biochemistry, ultrasound scrotum and MRI BRAIN with pituitary protocol was unremarkable. CT adrenals showed Adrenal Hyperplasia. Genetic Panel revealed pathogenic homozygous mutation of CYP11B1 with variant c45G<A (p.TrP15). Parents were counselled and child was managed with tablet Hydrocortisone and florinef and responded very well.