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 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 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

Female to male gender identity disorder in a patient with non-classical congenital adrenal hyperplasia

2014 ◽  
Author(s):  
Eva Lau ◽  
Jose Luis Castedo ◽  
Pedro Rodrigues ◽  
Zelia Figueiredo ◽  
Davide Carvalho
Keyword(s):  
Gender Identity ◽  
Congenital Adrenal Hyperplasia ◽  
Gender Identity Disorder ◽  
Male Gender ◽  
Adrenal Hyperplasia

A Case of Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Presented With Acute Liver Failure

2022 ◽  
pp. 097321792110688
Author(s):  
Sarah Alpini ◽  
Rasheda J. Vereen ◽  
Amy Quinn
Keyword(s):  
Liver Failure ◽  
Congenital Adrenal Hyperplasia ◽  
Dehydrogenase Deficiency ◽  
Clinical Presentation ◽  
Hydroxysteroid Dehydrogenase ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Adrenal Steroidogenesis ◽  
Recurrent Hypoglycemia ◽  
Deficiency Cases

Congenital adrenal hyperplasia (CAH) is a group of rare autosomal disorders characterized by a variety of defects in adrenal steroidogenesis. Most cases of CAH are due to an enzyme deficiency in either 21-hydroxylase or 11-beta-hydroxylase. A much rarer form of CAH due to 3-betahydroxysteroid dehydrogenase (3B-HSD) deficiency results in impaired synthesis of all steroid hormones. The clinical presentation of undervirilization in 46 XY patients, hyponatremia, hyperkalemia, and recurrent hypoglycemia in 3B-HSD deficiency cases is well described in the literature. We describe a neonate with 3B-HSD deficiency that presented with ambiguous genitalia and hypoglycemia and was found to have comorbid coagulopathy, cholestasis, and direct hyperbilirubinemia with liver failure that resolved with glucocorticoid and mineralocorticoid treatment. Prompt recognition of this disease is imperative for timely intervention.

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