scholarly journals Simple Virilization Type of Classic Congenital Adrenal Hyperplasia: Case Report

2018 ◽  
Vol 11 (3) ◽  
pp. 1345-1350
Author(s):  
I Made Pande Dwipayana ◽  
Karismayusa Sudjana ◽  
Siswadi Semadi ◽  
Ketut Suastika ◽  
Made Ratna Saraswati ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Chromosome Analysis ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Laboratory Examination ◽  
Androgen Excess ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Irregular Border ◽  
17 Hydroxyprogesterone ◽  
High Level

We have reported a case of 21 year old patient with congenital adrenal hyperplasia that manifestated with ambiguous genitalia and other signs of androgen excess. Chromosome analysis revealed 46 XX. Laboratory examination and imaging showed high level of 17-hydroxyprogesterone, undeveloped uterus, two ovaries with follicles, no testicles, no prostate, and mass at upper side of both kidney with irregular border confirmed the diagnosis. It was planned to give glucocorticoid therapy to the patient to suppress androgen level, genital reconstruction surgery and psychosexual therapy to reared as a woman, but she refused all suggestions because she wanted to be considered a man.

scholarly journals Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia

2021 ◽  
Author(s):  
Deborah P Merke ◽  
Ashwini Mallappa ◽  
Wiebke Arlt ◽  
Aude Brac de la Perriere ◽  
Angelica Lindén Hirschberg ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Disease Control ◽  
Standard Therapy ◽  
Extension Study ◽  
Modified Release ◽  
Adrenal Hyperplasia ◽  
Androgen Excess ◽  
Phase 3 ◽  
Patient Reported ◽  
17 Hydroxyprogesterone

Abstract Context Standard glucocorticoid therapy in congenital adrenal hyperplasia (CAH) regularly fails to control androgen excess, causing glucocorticoid overexposure and poor health outcomes. Objective We investigated whether modified-release hydrocortisone (MR-HC), which mimics physiologic cortisol secretion, could improve disease control. Methods A 6-month, randomized, phase 3 study was conducted of MR-HC vs standard glucocorticoid, followed by a single-arm MR-HC extension study. Primary outcomes were change in 24-hour SD score (SDS) of androgen precursor 17-hydroxyprogesterone (17OHP) for phase 3, and efficacy, safety and tolerability of MR-HC for the extension study. Results The phase 3 study recruited 122 adult CAH patients. Although the study failed its primary outcome at 6 months, there was evidence of better biochemical control on MR-HC, with lower 17OHP SDS at 4 (P = .007) and 12 (P = .019) weeks, and between 07:00h to 15:00h (P = .044) at 6 months. The percentage of patients with controlled 09:00h serum 17OHP (< 1200 ng/dL) was 52% at baseline, at 6 months 91% for MR-HC and 71% for standard therapy (P = .002), and 80% for MR-HC at 18 months’ extension. The median daily hydrocortisone dose was 25 mg at baseline, at 6 months 31 mg for standard therapy, and 30 mg for MR-HC, and after 18 months 20 mg MR-HC. Three adrenal crises occurred in phase 3, none on MR-HC and 4 in the extension study. MR-HC resulted in patient-reported benefit including menses restoration in 8 patients (1 on standard therapy), and 3 patient and 4 partner pregnancies (none on standard therapy). Conclusion MR-HC improved biochemical disease control in adults with reduction in steroid dose over time and patient-reported benefit.

Radioimmunoassay for 21-deoxycortisol: clinical applications

1985 ◽  
Vol 108 (4) ◽  
pp. 537-544 ◽  
Author(s):  
B. Gueux ◽  
J. Fiet ◽  
M. T. Pham-Huu-Trung ◽  
J. M. Villette ◽  
M. Gourmelen ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Normal Subjects ◽  
Ethyl Acetate Fraction ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Androgen Excess ◽  
Heterozygous Carriers ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency

Abstract. A radioimmunoassay for 21-deoxycortisol is described. The immunogen, 21-deoxycortisol-3-(O-carboxymethyl) oxime-bovine serum albumin, was prepared, the antisera raised against it were studied and the reliability of the assay was checked. The antiserum selected cross-reacted with 11-deoxycortisol (0.08%), corticosterone (0.25%), cortisol (0.6%) and 17-hydroxyprogesterone (1.6%). 21-deoxycortisol was separated by celite partition chromatography and eluted in the 70/30 (v/v) isooctane/ethyl acetate fraction together with 11-deoxycortisol and corticosterone. The radioimmunoassay was used to measure 21-deoxycortisol in the plasma of normal subjects and patients with androgen excess. In normal subjects, men (0.19 ng/ml ± 0.08) and women (0.18 ng/ml ± 0.09) had similar basal levels (mean ± sd). One hour after ACTH stimulation, these levels were increased by a factor of 3.5. In 7 patients treated for classical congenital adrenal hyperplasia associated with 21-hydroxylase deficiency, basal values varied between 9.1 and 39.9 ng/ml (measured at 8 a.m.). In 7 untreated women with lateonset congenital adrenal hyperplasia (with 21-hydroxylase deficiency), ACTH-stimulated levels were increased to between 9 and 25.5 ng/ml. In 14 heterozygous carriers of 21-hydroxylase deficiency, diagnosed by HLA genotyping, all ACTH-stimulated levels were well above the highest corresponding levels in normal subjects, whereas 17-hydroxyprogesterone levels remained within the normal range in 9 of the cases.

scholarly journals Effects on Gender Identity of Prenatal Androgens and Genital Appearance: Evidence from Girls with Congenital Adrenal Hyperplasia

2003 ◽  
Vol 88 (3) ◽  
pp. 1102-1106 ◽  
Author(s):  
Sheri A. Berenbaum ◽  
J. Michael Bailey
Keyword(s):  
Gender Identity ◽  
Congenital Adrenal Hyperplasia ◽  
Reconstructive Surgery ◽  
Ambiguous Genitalia ◽  
Average Score ◽  
Adrenal Hyperplasia ◽  
Androgen Excess ◽  
Sex Assignment ◽  
Prenatal Androgens ◽  
Identity Score

To address questions about sex assignment in children with ambiguous genitalia, we studied gender identity in girls with congenital adrenal hyperplasia (CAH) in relation to characteristics of the disease and treatment, particularly genital appearance and surgery. A 9-item gender identity interview was administered to 43 girls with classical CAH ranging in age from 3–18 yr, 7 tomboys, and 29 sister control girls. Groups were compared on total score and on individual items. Results showed that, on the total gender identity score, 88% of girls with CAH had scores overlapping those of control girls, but the average score was intermediate between control girls and tomboys. On individual items of gender identity (discomfort as a girl, wish to be a boy), girls with CAH were similar to control girls. Gender identity in girls with CAH was not related to degree of genital virilization or age at which genital reconstructive surgery was done. Thus, moderate androgen excess early in development appears to produce a small increase in the risk of atypical gender identity, but this risk cannot be predicted from genital virilization.

scholarly journals A Phase 2, Multicenter Study of Nevanimibe for the Treatment of Congenital Adrenal Hyperplasia

2020 ◽  
Vol 105 (8) ◽  
pp. 2771-2778 ◽  
Author(s):  
Diala El-Maouche ◽  
Deborah P Merke ◽  
Maria G Vogiatzi ◽  
Alice Y Chang ◽  
Adina F Turcu ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Primary Outcome Measure ◽  
Dose Titration ◽  
Adrenal Hyperplasia ◽  
Androgen Excess ◽  
Classic Cah ◽  
17 Hydroxyprogesterone ◽  
And Control ◽  
Dose Levels ◽  
Single Blind

Abstract Context Patients with classic congenital adrenal hyperplasia (CAH) often require supraphysiologic glucocorticoid doses to suppress adrenocorticotropic hormone (ACTH) and control androgen excess. Nevanimibe hydrochloride (ATR-101), which selectively inhibits adrenal cortex function, might reduce androgen excess independent of ACTH and thus allow for lower glucocorticoid dosing in CAH. 17-hydroxyprogesterone (17-OHP) and androstenedione are CAH biomarkers used to monitor androgen excess. Objective Evaluate the efficacy and safety of nevanimibe in subjects with uncontrolled classic CAH. Design This was a multicenter, single-blind, dose-titration study. CAH subjects with baseline 17-OHP ≥4× the upper limit of normal (ULN) received the lowest dose of nevanimibe for 2 weeks followed by a single-blind 2-week placebo washout. Nevanimibe was gradually titrated up if the primary outcome measure (17-OHP ≤2× ULN) was not met. A total of 5 nevanimibe dose levels were possible (125, 250, 500, 750, 1000 mg twice daily). Results The study enrolled 10 adults: 9 completed the study, and 1 discontinued early due to a related serious adverse event. At baseline, the mean age was 30.3 ± 13.8 years, and the maintenance glucocorticoid dose, expressed as hydrocortisone equivalents, was 24.7 ± 10.4 mg/day. Two subjects met the primary endpoint, and 5 others experienced 17-OHP decreases ranging from 27% to 72% during nevanimibe treatment. The most common side effects were gastrointestinal (30%). There were no dose-related trends in adverse events. Conclusions Nevanimibe decreased 17-OHP levels within 2 weeks of treatment. Larger studies of longer duration are needed to further evaluate its efficacy as add-on therapy for CAH.

scholarly journals Acute Shock in an Ambiguous Child

2014 ◽  
Vol 2 (1) ◽  
pp. 38-39
Author(s):  
Pranab Kumar Sahana ◽  
Nilanjan Sengupta ◽  
Mukut Roy ◽  
Ashish Deshmukh ◽  
Ranehn Dasgupta
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Period ◽  
Female Child ◽  
Ambiguous Genitalia ◽  
Enzyme Deficiency ◽  
Adrenal Hyperplasia ◽  
Androgen Excess ◽  
Salt Wasting ◽  
High Index Of Suspicion ◽  
Prompt Diagnosis

Patients with congenital adrenal hyperplasia (CAH) usually presents with varied manifestations. In female, it can manifest as ambiguous genitalia, salt wasting crisis or androgen excess in puberty depending on the severity of enzyme deficiency. Here, we report a four and half year old girl who developed salt wasting crisis in the neonatal period. Prompt diagnosis and immediate glucocorticoid and fludrocortisone replacement saved her life. High index of suspicion is needed to diagnose CAH and continued replacement of glucocorticoid and mineralocorticoid is needed to suppress virilization of the female child and prevent further crises.Bangladesh Crit Care J March 2014; 2 (1): 38-39

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