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  • Title: [The deficiency of 17-hydroxylase: a cause of growth and puberty retardation in the girl. One case].
    Author: Feit JP, David L, Patricot MC, Macabéo V, Lebacq E, François R.
    Journal: Arch Fr Pediatr; 1978 Apr; 35(4):395-405. PubMed ID: 308359.
    Abstract:
    A case of 17-hydroxylase deficiency in a 14 years old girl is reported. She presented with the unique association of hypertension, hypokaliemia, delayed puberty and growth failure. It is suggested that the reduced statural growth starting between 7 and 10 years of age and accompanied by a markedly reduced bone maturation was, at least in part, the consequence of the absence of adrenarche. The secretion rate of cortisol was very low while an increased production of D.O.C. and corticosterone was demonstrated by the elevated levels of their urinary tetrahydroderivatives. A good feminisation and a growth spurt were observed under ethinyl oestradiol substitutive therapy. A progressive normalization of the kaliemia and the blood pressure was obtained with hydrocortisone treatment but long term hydrocortisone therapy appears less satisfactory with easy clinical manifestations of overdosage on the one hand and incomplete maintenance of normal blood pressure of the other hand.
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