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

scholarly journals Association Between Plasma Renin Activity with Hypertension in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Enzyme Deficiency

2021 ◽  
Author(s):  
Siska Mayasari Lubis ◽  
Eka Lakshmi Hidayati ◽  
Frida Soesanti ◽  
Bambang Tridjaja AAP
Keyword(s):  
Plasma Renin Activity ◽  
Congenital Adrenal Hyperplasia ◽  
Plasma Renin ◽  
Cross Sectional Study ◽  
Renin Activity ◽  
Enzyme Deficiency ◽  
Activity Levels ◽  
Adrenal Hyperplasia ◽  
Cross Sectional ◽  
Salt Wasting

Abstract BackgroundHypertension is an uncommon manifestation of congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency (21-OHD CAH). Nevertheless, it is necessary to continuously be aware of hypertension incidence in 21-OHD CAH patients and its possible causes. Conflicting results regarding the role of PRA have been reported. This study aims to evaluate the association between plasma renin activity levels (PRA) with hypertension in 21-OHD CAH children. MethodsWe did an observational analytic study with a cross-sectional study design. The subjects were 21-OHD CAH children, aged >6 months to 18 years, selected by consecutive sampling and then compared between 21-OHD CAH with hypertension and non-hypertension groups. We gathered 40 subjects, 20 subjects in hypertension and 20 subjects in non-hypertension groups.ResultsThere were 16 from 27 (59.3%) and 4 from 13 subjects (30.8%) with hypertension in salt-wasting and simple virilizing type, respectively. There was a significant mean difference in PRA levels between hypertension and non-hypertension groups in salt wasting patients (p=0,016). The risk of hypertension in salt wasting patients with low PRA levels was 1,09 times after controlling for sex, 17-OHP levels, and the last fludrocortisone dose. The last dose of hydrocortisone had a significant relationship with the incidence of hypertension in salt wasting patients. ConclusionsThis study concludes that hypertension in 21-OHD CAH patients during the study period was 32%. The risk of hypertension in salt wasting patients with low PRA levels was 1.09 times after being controlled for sex, 17 OHP level, and the last dose of fludrocortisone.

scholarly journals A neglected case of treatable genetic disorder

2016 ◽  
Vol 4 (04) ◽  
pp. 01-03
Author(s):  
C. Rekha ◽  
R. Paramaguru ◽  
Vimala Sarojini ◽  
Dinisha Einstien ◽  
A. Prathiba
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Genetic Disorder ◽  
External Genitalia ◽  
Female Child ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Adrenal Hormones ◽  
Stage 4 ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia(CAH) is a autosomal recessive genetic disorder involving adrenal hormones resulting in excessive production of androgens and hence their effects. Here we report a case of CAH which was diagnosed very late but was treated successfully. 12 years old female child came to us with ambiguous genitalia. Examination showed praders stage 4 external genitalia. Evaluated further and confirmed as a case of classic type of simple virilising congenital adrenal hyperplasia due to 21 hydroxylase deficiency. She was successfully treated with steroids and surgical correction was also done. Now child has also attained menarche and on follow up at our pediatric out patient department.

scholarly journals Novel Therapies for Treating Short Stature with Congenital Adrenal Hyperplasia

2011 ◽  
Vol 2 (2) ◽  
pp. 45-50
Author(s):  
Joe Leigh Simpson ◽  
Michael Christopher Hann ◽  
Anisha Kshetrapal ◽  
Maria I New
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adult Height ◽  
Treatment Strategies ◽  
Gonadotropin Releasing Hormone ◽  
Novel Therapies ◽  
Adrenal Hyperplasia ◽  
Androgen Excess ◽  
Releasing Hormone ◽  
Salt Wasting ◽  
Hormone Analogs

ABSTRACT Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders in which various errors in adrenal biosynthesis pathways lead to impaired cortisol secretion, possible impairment of mineralocorticoid production and androgen excess. Glucocorticoid replacement therapy is the primary treatment for CAH; however, the combination of androgen excess and high doses of glucocorticoids contributes to shortened adult height. Novel approaches to address this problem are being developed, particularly the use of growth hormone (GH) and gonadotropin releasing hormone analogs (GnRHa). In this review, we document and compare the effectiveness of these novel therapies in ameliorating the decreased adult height observed in patients with CAH. Available data indicate effectiveness of these novel treatment strategies, suggesting widespread implementation of these treatment strategies should be tested with the expectation of being recommended as the standard of care. Abbreviations Congenital adrenal hyperplasia (CAH); Salt wasting (SW-CAH); Non-salt wasting (NSW-CAH); Growth hormone (GH); Gonadotropin releasing hormone analogs (GnRHa); Luteinizing hormone releasing hormone analog (LHRHa); 21-hydroxylase gene (CYP21); 21-hydroxylase pseudogene (CYP21p); Hypothalamic-pituitary-adrenal (HPA); Corticotropin-releasing hormone (CRH); Adrenocorticotropic hormone (ACTH); Bone mineral density (BMD); Standard score (SDS).

scholarly journals Etiology of ambiguous genitalia in newborns with XX karyotype: A cross-sectional observational study.

2021 ◽  
Vol 28 (06) ◽  
pp. 799-803
Author(s):  
Waqas Imran Khan ◽  
Abdur Rehman ◽  
Erum Afzal ◽  
Asim Khurshid ◽  
Sidra Anjum ◽  
...  
Keyword(s):  
Observational Study ◽  
Congenital Adrenal Hyperplasia ◽  
Gestational Age ◽  
Ambiguous Genitalia ◽  
P Value ◽  
Adrenal Hyperplasia ◽  
Cross Sectional ◽  
Life Threatening ◽  
High Index Of Suspicion ◽  
Local Defects

Objective: To determine the etiology of ambiguous genitalia in newborn females with XX karyotype. Study Design: Cross Sectional Observational study. Setting: Children Hospital and Institute of Child Health Multan (CH& ICH). Period: July 2018 to December 2019. Material & Methods: Fifty two patients were enrolled after taking informed consent from parents/guardians. Various causes of ambiguous genitalia like CAH, maternal intake of virilizing drugs during pregnancy and isolated local genital defect were noted. Results: Out of 52 patients, mean gestational age was 38.23 ± 2.36 weeks and 10 (20.2 %) had gestational age up to 36 weeks while 42 (80.8%) had gestational age more than 36 weeks. Mean age was 12.37 ± 4.21 days. Mean weight was 2965.43 ± 412.23 grams while 24 (46.1%) had weight up to 2500 grams and 28 (53.9%) had weight more than 2500 grams. Congenital adrenal hyperplasia in our study cases was noted in 45 (86.5%). Congenital local genital defects in our study cases were noted in 6 (11.5%) while maternal ingestion of virilizing drugs during pregnancy was noted in 1 (2%). CAH was not associated with gestational age or weight of newborn with p value 0.680 and 0.595 respectively. Conclusion: Congenital adrenal hyperplasia in our study cases was the commonest reason of ambiguous genitalia in newborn females with XX karyotype followed by congenital local defects and maternal use of virilizing drugs. High index of suspicion is required for the diagnosis of potential life threatening disorder like CAH.

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 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.

Congenital adrenal hyperplasia

2010 ◽  
pp. 1891-1900
Author(s):  
I.A. Hughes
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Recessive Mutations ◽  
Adrenal Steroidogenesis ◽  
Life Threatening ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) results from enzymatic defects in the pathways of adrenal steroidogenesis, with over 90% of cases being due to 21-hydroxylase deficiency caused by autosomal recessive mutations in the CYP21 gene. Classical presentation—this is in the neonatal period with ambiguous genitalia/virilization of a female infant, with phenotype traditionally subdivided according to the presence (75%) or absence of salt wasting, which in affected males is the sole manifestation (and can, if unrecognized, be life-threatening). Delayed presentations can occur, manifest in women as hirsutism, oligomenorrhoea, and infertility and in men as infertility or testicular adrenal rest tumours....

scholarly journals Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Heves Kırmızıbekmez ◽  
Rahime Gül Yesiltepe Mutlu ◽  
Serdar Moralıoğlu ◽  
Ahmet Tellioğlu ◽  
Ayşenur Cerrah Celayir
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Growth Retardation ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Significant Regression ◽  
One Year ◽  
The One ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned.

Aldosterone Synthesis in Salt-Wasting Congenital Adrenal Hyperplasia with Complete Absence of Adrenal 21-Hydroxylase

1991 ◽  
Vol 324 (3) ◽  
pp. 145-149 ◽  
Author(s):  
Phyllis W. Speiser ◽  
Levon Agdere ◽  
Hajime Ueshiba ◽  
Perrin C. White ◽  
Maria I. New
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Salt Wasting
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