The Siver Lining In The Dark Cloud

Dr Ajitesh Roy (Chief of Endocrinology - Ruby General Hospital)



A 24 year old lady who had been suffering from hypokalaemia (low potassium level) had been admitted in Ruby General Hospital with a history of nausea and vomiting. The lady had been admitted in various hospitals for multiple occasions due to recurrent hypokalaemia and was treated with K+ supplements. She also suffered from persistent hypertension. She was born out of a consanguineous marriage (marriage between two individuals who are related by blood) and had no history of perinatal (immediately before or after birth) or childhood crisis. Her developmental milestone was normal but, there was no feature of puberty for which she received a few courses of estrogen. 

Other evaluation showed persistent metabolic alkalosis, where the pH of tissue is elevated beyond the normal range (7.35 – 7.45). Radiological investigations revealed the absence of uterus and ovary. The patient was thought to be suffering from 17 hydroxylase deficiency due to decreased potassium level, primary amenorrhea, poor secondary sexual characteristics and the absence of the mullerian structure. There was no such similar problem noticed in other family members. Blood sample had been sent for plasma. Other investigations showed very low Cortisol 0.4mcg/dl, very low Oestrogen (10.0ng/dl) with very high LH FSH (115), and Progesterone (2.11 ng/ml). 

The patient was suffering from a condition called hypergonadotropic hypogonadism (an impaired response of the gonads to the gonadotropins, Follicle - Stimulating Hormone (FSH) and Luteinizing Hormone (LH)) with mineralocorticoid (They regulate the balance of water and electrolytes in the body) excess state, most likely due to 17 (OH) deficiency. She is also a known case of DVT (Deep Vein Thrombosis) ­­­ with partial cannalisation. 

The lady was treated with KCL (Potassium Chloride) infusion, Hydrocortisone and mineralocorticoid antagonist to which she responded dramatically. The patient also needed to be treated with Oestrogen supplementation. And subsequently she was discharged in a stable condition.

Location: Kolkata, West Bengal, India

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