Page 5 - IJCCR-Vol.03-No.05
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International Journal of Clinical Case Reports 2013, Vol.3, No.5, 29
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30
30
0.52
ng/mL, 60
th
,
min: 0.53 ng/mL, 90
th
min:
0.55
ng/mL) and hydrocortisone (10 mg/day) and
ethinyl estradiol 0,03 mg/day was started.
Discussion
17
OHD is a very rare syndrome and there was only 1
case reported in Turkey (Kandemir and Yordam, 1997).
Prevalence may be more common in Brazil (Belgini et
al., 2010). The classical presentation of 17OHD is
hypokalemia and delayed puberty (Biglieri et al.,
1996).
Approximately 90% patients are hypertensive
or hypokalemic at presentation. Our patient had all the
classical features of this syndrome apart from
hypertension. Adrenal insufficiency does not reflect
classical fetaures of Addison's disease because of
increased production of corticosterone. Our patient
had normal female phenotype, primary amenorrhea
with sexual infantilism (absence of breast
development and axillary and pubic hair). Deficient
estrogen production explains hypergonadotropic
hypogonadism. Estrogen therapy is given for
induction of puberty and could be required with
progesterone in later life to prevent osteoporosis.
Parents of our patient were consanguineous and there
was no any similar patient of family history of the
patient, therefore, consanguineous marriage may be
responsible for emerging of this patient.
As a conclusion, although 17OHD is a rare cause of
CAH and primary amenorrhea; it should be consid ered
when delayed puberty occurs in patients with hypo-
kalemia and hypergonadortropic hypogonadism.
References
Chung B.C., Picado-Leonard J., Haniu M., Hall P.F., Shively J.E., Miller
W.L., 1987, Cytochrome P457c17 cloning of human adrenal and testis
cDNAs indicates the same gene is expressed in both tissues, Proc. Natl.
Acad. Sci. U S A., 84: 407-411
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Grumbach M.M., Hughes I.A., and Conte F.A., 2003, Disorder of sex
differentiation, In: Larsen P.R., Kronenberg H.M., Melmed S., eds.,
Williams textbook of endocrinology, 10th edtion, Philadelphia:
Saunders, pp.842-1002
Kandemir N., and Yordam N., 1997, Congenital adrenal hyperplasia in
Turkey: A review of 273 patients, Acta Paediatr, 86(1): 22-25
PMid: 9116420
Belgini D.R., Mello M.P., Baptista M.T., Oliveira D.M., Denardi F.C.,
Garmes H.M., Grassiotto Oda R., Benetti Pinto C.L., Marques-de-Faria
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confirm the clinical molecular profile of complete combined
17
a-hydroxylase/17,20-lyase deficiency in Brazil, Arq. Bras.
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PMid: 21340157
Biglieri E.G., Herron M.A., and Brust N., 1996, 17-a-Hydroxylase
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