scholarly journals Congenital adrenal hyperplasia associated with mental disorders: A case report

2020 ◽  
Vol 52 (1-2) ◽  
pp. 57-65
Author(s):  
Roberto Grujičić ◽  
Jovana Maslak ◽  
Sanja Stupar ◽  
Milica Pejović-Milovančević
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Psychosocial Functioning ◽  
Elevated Serum ◽  
Autosomal Recessive Disorder ◽  
Postnatal Period ◽  
Therapeutic Interventions ◽  
Adrenal Hyperplasia ◽  
The Impact ◽  
Psychiatric Problems

Introduction: Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by a defect in the synthesis of steroid hormones of the adrenal cortex. This defect results in elevated serum androgen levels. Androgens have been shown to have a significant effect on the developing brain during prenatal and postnatal period, which can lead to impaired neurocognitive functioning and contribute to the development of psychiatric disorders. The aim: In this paper, we will present a patient with CAH who developed serious psychiatric problems during adolescence. The aim of this case report is to discuss a possible connection between these two conditions and to consider possible diagnostic and therapeutic interventions. Case report: The patient was diagnosed with the classic form of CAH at birth. After months of corticosteroid substitution therapy, the patient was surgically treated at 7 months of age with vaginoplasty and clitoroplasty. The patient developed serious psychiatric problems from the depressive-anxiety spectrum in the early adolescent period, followed by impaired impulse control and aggression. This report illustrates the diagnostic and therapeutic interventions conducted at the Clinical Department for Children and Adolescents of the Institute of Mental Health. Conclusion: Given the abundant evidence on the impact of CAH on cognitive ability and psychosocial functioning, it is necessary to develop and implement complementary multidisciplinary diagnostic and therapeutic interventions in these patients. Such interventions would aim to prevent the onset of psychiatric comorbidities and consequently improve the quality of life and functionality of these patients.

scholarly journals Neglected congenital adrenal hyperplasia presenting as recurrent abdominal pain

2020 ◽  
Vol 8 (2) ◽  
pp. 45-46
Author(s):  
Isaac Oludare Oluwayemi ◽  
Oyebanji AH ◽  
Omowaye MT
Keyword(s):  
Abdominal Pain ◽  
Congenital Adrenal Hyperplasia ◽  
Elevated Serum ◽  
Lower Abdominal Pain ◽  
Autosomal Recessive Disorder ◽  
Tanner Stage ◽  
Bone Age ◽  
Urogenital Sinus ◽  
Normal Female ◽  
Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with the incidence of the classic type being 1:15,000 births worldwide. It results from defective synthesis of steroid hormones because of deficiency of one of the five enzymes required for synthesis of cortisol. Cases of severe forms of CAH are often missed in developing countries where there is no program for newborn screening with many of them dying in neonatal periods. Management of the mild forms are also hindered or delayed because of superstitions, ignorance and poverty. We present an 11years old girl who presented with abnormal genital since birth and recurrent monthly lower abdominal pain of eight month duration. She had Tanner stage 4 breasts, normal female pubic hair distribution, clitoromegaly, fused scrotalized labia with urogenital sinus and absent vaginal opening. Abdominal ultrasound showed normal female reproductive organs; she had advanced bone age of 16years and elevated serum 17-hydroxyprogesterone level. She’s being worked up for possible genitoplasty.

Combination of turner syndrome and congenital adrenal hyperplasia: a rare case report

2017 ◽  
Author(s):  
Ivana Sagova ◽  
Dušan Pavai ◽  
Matej Stančik ◽  
Helena Urbankova ◽  
Juliana Gregova ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Rare Case ◽  
Adrenal Hyperplasia ◽  
Rare Case Report

scholarly journals Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report

2018 ◽  
Vol 64 (4) ◽  
pp. 432-436
Author(s):  
Ivana Ságová ◽  
Matej Stančík ◽  
Dušan Pávai ◽  
Daniela Kantárová ◽  
Anton Vaňuga ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Rare Combination ◽  
21 Hydroxylase Deficiency

Sepsis-Associated Cholestasis: The Impact of Mitochondrial Dysfunction (A Case Report)

2021 ◽  
Vol 3 (1) ◽  
pp. 44-48
Author(s):  
Behzad Noroozi ◽  
Ali Hadi ◽  
Bita Shahrami ◽  
Ayda Ardabili ◽  
Fatemeh Yoonesi ◽  
...  
Keyword(s):  
Case Report ◽  
Bilirubin Level ◽  
Early Recognition ◽  
Elevated Serum ◽  
High Increase ◽  
Early Management ◽  
Drug History ◽  
Fall From Height ◽  
The Impact ◽  
Complications And Mortality

Introduction: Hyperbilirubinemia – a condition of elevated serum bilirubin above the reference range, is common in hospitalized patients. The reasons for the increase in the bilirubin level can be pre-hepatic, hepatic, and post-hepatic. Sepsis is one of the most important causes of hyperbilirubinemia in critically ill patients. Case report: We present a 30-year-old woman with no past medical and drug history who was admitted to the intensive care unit (ICU) due to multiple trauma and fractures due to a fall from height. During the ICU stay, the patient developed jaundice with a high increase in the bilirubin level. A diagnosis of sepsis-associated cholestasis was considered after ruling out other possible pathologies. The hyperbilirubinemia improved with the early management of sepsis concomitant supportive medical therapy. Conclusion: Early recognition and treatment of sepsis as a cause of cholestasis should be considered in ICU patients. Drugs targeting mitochondrial function would provide rapid hepatic recovery reducing complications and mortality. Keywords: Cholestasis, Critical illness, Hyperbilirubinemia, Liver failure, Sepsis

Non-classic congenital adrenal hyperplasia: Case report

2019 ◽  
Vol 493 ◽  
pp. S252
Author(s):  
R. LÓpez Travieso ◽  
M.D. MartÍn MartÍnez ◽  
E. Mateos RodrÍguez ◽  
J.M. Barrasa FernÁndez ◽  
A. FernÁndez Ferreiro
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Classic Congenital Adrenal Hyperplasia

scholarly journals Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Cigdem Binay ◽  
Enver Simsek ◽  
Oguz Cilingir ◽  
Zafer Yuksel ◽  
Ozden Kutlay ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Mutational Analysis ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Gene Encoding ◽  
Turkish Children ◽  
17 Hydroxyprogesterone ◽  
Ovarian Syndrome ◽  
Premature Pubarche

Background. Nonclassic congenital adrenal hyperplasia (NCAH), caused by mutations in the gene encoding 21-hydroxylase, is a common autosomal recessive disorder. In the present work, our aim was to determine the prevalence of NCAH presenting as premature pubarche (PP), hirsutism, or polycystic ovarian syndrome (PCOS) and to evaluate the molecular spectrum ofCYP21A2mutations in NCAH patients.Methods. A total of 126 patients (122 females, 4 males) with PP, hirsutism, or PCOS were included in the present study. All patients underwent an ACTH stimulation test. NCAH was considered to be present when the stimulated 17-hydroxyprogesterone plasma level was >10 ng/mL.Results. Seventy-one of the 126 patients (56%) presented with PP, 29 (23%) with PCOS, and 26 (21%) with hirsutism. Six patients (4,7%) were diagnosed with NCAH based on mutational analysis. Four different mutations (Q318X, P30L, V281L, and P453S) were found in six NCAH patients. One patient with NCAH was a compound heterozygote for this mutation, and five were heterozygous.Conclusion. NCAH should be considered as a differential diagnosis in patients presenting with PP, hirsutism, and PCOS, especially in countries in which consanguineous marriages are prevalent.

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