International Journal of Clinical Case Reports 2013, Vol.3, No.5, 29
-
30
http://ijccr.sophiapublisher.com
29
Research Report Open Access
A Rare Cause of Primary Amenorrhea and Hypokalemia; 17-?-Hydroxylase
Deficiency (17OHD)
Mustafa Demirpence , Devrim Dolek , Fusun Salgur , Ahmet Gorgel , Ece Harman , Mithat Bahceci
Department of Endocrinology and Metabolism, Ataturk Training and Research Hospital, Izmir, Turkey
Corresponding author email:
demirpencemustafa@gmail.com
International Journal of Clinical Case Reports 2013, Vol.3, No.5 doi: 10.5376/ijccr.2013.03.0005
Received: 24 Apr., 2013
Accepted: 10 May, 2013
Published: 12 May, 2013
Copyright: © 2013 Demirpence et al., This is an open access article published under the terms of the Creative Commons Attribution License, which permits
unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Preferred citation for this article as:
Demirpence et al., 2013, A Rare Cause of Primary Amenorrhea and Hypokalemia; 17-?-Hydroxylase Deficiency (17OHD), International Journal of Clinical
Case Reports, Vol.3, No.5 29-30 (doi: 10.5376/ijccr.2013.03.0005)
Abstract
A 22
-
year-old female patient was admitted due to primary amenorrhea and chronic weakness. Parental consanguinity,
delayed puberty with normal stature form the additional information. Hypokalemia with metabolic alkalosis, low cortisol, high
ACTH, LH and FSH pointed to the possibility of congenital adrenal hyperplasia (CAH) with 17a hydroxylase deficiency (17 OHD).
46
XX karyotype and high progesterone supported this. In summary, the possibility of 17 OHD should be suspected in patients with
hypokalemic normal blood pressure or hypertension and hypergonadortropic hypogonadism. Our patient all clinical and laboratory
findings we diagnosed a 17
-
alpha
-
hydroxylase deficiency in this patient and hydrocortisone (10 mg/day) and ethinyl estradiol
0.03
mg/day was started.
Keywords
17
-
a
-
hydroxylase deficiency, Hypokalemia and primary amenorrhea
Introduction
17
-
hydroxylase (17
-
OH) deficiency is a rare form of
congenital adrenal hyperplasia resulting from
mutation in
CYP17
gene (Chung et al., 1987). It is an
a autosomal recessive defect and estimated incidence
is approximately 1 in 50.000 individuals (Grumbach
et al., 2003). This enzyme is necessary to convert
pregnenolone to 17
-
hydroxypregnenolone and proge-
sterone to 17
-
hydroxyprogesterone. Absence of this
enzyme impairs all sex steroid and cortisol production.
It cause to reduced or absent levels of both gonadal
and adrenal sex hormones result in sexual infantilism.
Patients are usually diagnosed during an evaluation of
delayed puberty. We reported a female patient with
typical of 17OHD.
Case
A 22
-
year-old female patient was admitted due to
primary amenorrhea and chronic weakness. She had 3
normal siblings and parents of patients were
consanguinious. Physical examination revealed sexual
infantilism (Figure 1). Persistant hypokalemia
(3.1
meq/L) and metabolic alkalosis were determined
(
pH: 7.6). Karyotype of the patient was 46XX. Serum
cortisol (0.8 mcg/dL), aldosterone (40 pg/mL), DHEAS
(14,8
µg/dL), estradiol (<11,8 pg/dL), total testesteron
(
<10 ng/dL) and 17
-
OH progesterone (0,46 ng/mL)
Figure 1 Apperance of the patient with sexual infantilism
levels were low, whereas ACTH (119 pg/mL), FSH
(86
mIU/L) and progesterone levels were high
(11
ng/mL, normal range <1.5 ng/mL). With these
findings we suspected from congenital adrenal hyper-
plasia and an ACTH stimulation test with 1 mg
tetracosactrin was performed. Results pointed out an
17
-
alpha hydroxylase deficiency (17
-
OH progesterone
levels were low (baseline: 0,46 ng/mL, 30
th
min: