Published November 18, 2022 | Version v1
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A rare case of salt wasting type of Congenital Adrenal Hyperplasia with Turner Syndrome

Authors/Creators

  • 1. Department of Pediatrics, Gujarat Adani Institute of Medical Sciences and GK General Hospital, Bhuj, Kachchh, Gujarat-370001

Description

ABSTRACT

Combination of Congenital Adrenal Hyperplasia (CAH) with Turner Syndrome (TS) is rare. We report a 20-days old new born, born from second degree consanguineous marriage presented with refusal of feeds, vomiting and loose stools. On examination, ambiguous genitalia with presence of a 2.6 cm phallus, incomplete labial fusion, gonads not palpable and hyperpigmentation were noted. Laboratory findings revealed a classical type of CAH caused by 21-hydroxylase deficiency. Karyotyping showed a 45 X0[4] / 46 XX[16] pattern concluding mosaic TS. She was given hydrocortisone at a dose of 5 mg/m2/day, fludrocortisone acetate in dose of 0.1mg/day, along with oral salt of 1 gm/day. At 8 months follow-up, the patient appeared to be in good health; her height was 69.3 cm [> 50th percentile] and her weight was 8.3 kg (> 50th percentile). System examinations turned out to be normal. The patient’s electrolyte levels were normal and she was in good metabolic control. The findings of this particular patient show that routine karyotyping during investigation of patients with disorders of sexual differentiation (DSD) can help us to reveal TS. Additionally, signs of virilism have to be investigated at the time of diagnosis or during physical examinations for proper follow-up of TS cases.

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References

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