Introduction: Congenital adrenal hyperplasia is an autosomal recessive disorder characterized by enzyme deficiencies in the adrenal steroidogenesis pathway. The most common type is 21 hydroxylase deficiency and is divided into two groups as classical and nonclassical type. 75% of the classical type of cases is salt-losing type, and cortisol and aldosterone deficiency symptoms occur in patients. Female cases presented with ambiguus genitalia due to hyperandrogenemia at birth. In male cases, scrotal hyperpigmentation and macropenis are present.
Case: A 7-month-old male patient was referred to us because of the high level of TSH in his examinations. His past medical history revealed that he was born with 3000 grams he did not have any complaints such as concomitant vomiting and diarrhea.It has been learned that the child has been followed up by the department of gastroenterology for developmental delay since 3 months.His parents are first degree cousins.
On his physical examination weigth:4.7 kg (-3.92SD), height:62 cm (-2.61SD), he was malnourished, thyroid stage 0, axilla negative, pubis tanner stage1, testes 2/2 ml palpable bilateral in scrotum, penis length was 3 cm, there was no scrotal hyperpigmentation.
In the laboratory the values: fT4: 1.01 ng/dl, TSH:10.5 uIU/ml, glucose: 75 mg/dl sodium: 127.9 mmol/L potassium:5.74 mmol/L were found. ACTH:41.8 pg/ml cortisol: 4.42 ugg/dl, 17 OH progesterone >19.2 ng/ml, renin 2.59 ng/ml/h, aldosterone 19.1 ng/dl, the patient was hospitalized because of mineralicorticoid deficiency and the standard dose ACTH stimulation test was performed.
ACTH at baseline: 14.3 pg/ml, cortisol: 0.68,6g/dl, 17 OH progesterone: 2.26 ng/ml; peak cortisol: 1.47: g/dl, peak 17 Oh progesterone: 92.3 ng/ml. hydrocortisone 15 mg/m2/day, fludrocortisone 2x 0.1 mg and 3 gr/day oral salt treatment was started with diagnosis of adrenal insufficiency. In the genetic analysis, the CYP21A2 gene revealed a c.293-13C> G homozygous mutation previously described in the literature. The patient's parents were also shown to be carriers of the same mutation.
Conclusion: This case was diagnosed because of hyponatremia and hyperkalemia at 7 months of age due to malnutrition. There is no macropenis and scrotal hyperpigmentation in the clinic and there is no hypoglycemia and vomiting symptoms. The patient's basal ACTH was normal and this condition was thought to be related to malnutrition.
This case is presented because of its late diagnosis and presentation to a different clinic.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology