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.

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 Cryptomenorrhoea due to imperforate hymen: a case report

2019 ◽  
Vol 8 (7) ◽  
pp. 2946
Author(s):  
Romi Bansal ◽  
Priyanka . ◽  
Sneha .
Keyword(s):  
Female Genital Tract ◽  
Lower Abdominal Pain ◽  
Tanner Stage ◽  
Urogenital Sinus ◽  
Imperforate Hymen ◽  
Satisfactory Condition ◽  
Stage 4 ◽  
Complete Failure ◽  
Axillary Hair

Imperforate hymen is a rare obstructive congenital anomaly of the female genital tract which arises as a result of complete failure of canalisation of the inferior end of the vaginal plate at the junction between the urogenital sinus and the vagina. Its prevalence is 0.05%-0.1%. We are presenting a case of 14 years old girl who came with complaints of lower abdominal pain since 10 days not associated with nausea, vomiting and diarrhoea. She had not attained menarche but her secondary sexual characters were developed with breast, pubic and axillary hair in tanner stage 4. MRI revealed hematocolpos and hematometra with imperforate hymen. Hymenotomy was performed and 300-400 ml of thick tarry colour blood was drained. Her postoperative period was uneventful, and patient was discharged in satisfactory condition. On follow up after 1 month, patient resumed normal menses.

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.

Validation of automatic bone age determination in children with congenital adrenal hyperplasia

2013 ◽  
Vol 43 (12) ◽  
pp. 1615-1621 ◽  
Author(s):  
David D. Martin ◽  
Katharina Heil ◽  
Conrad Heckmann ◽  
Angelika Zierl ◽  
Jürgen Schaefer ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Age Determination ◽  
Bone Age ◽  
Adrenal Hyperplasia

Growth curves for congenital adrenal hyperplasia from a national retrospective cohort

2016 ◽  
Vol 29 (12) ◽  
Author(s):  
Patricia Bretones ◽  
Benjamin Riche ◽  
Emmanuel Pichot ◽  
Michel David ◽  
Pascal Roy ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adult Height ◽  
Bone Age ◽  
Strong Impact ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Bone Maturation ◽  
The Mean ◽  
Puberty Onset ◽  
21 Hydroxylase Deficiency

Abstract Background: In congenital adrenal hyperplasia (CAH), adjusting hydrocortisone dose during childhood avoids reduced adult height. However, there are currently no CAH-specific charts to monitor growth during treatment. Our objective was to elaborate growth reference charts and bone maturation data for CAH patients. Methods: We conducted a retrospective observational cohort study, in 34 French CAH centers. Patients were 496 children born 1970–1991 with genetically proven 21-hydroxylase deficiency. Their growth and bone maturation data were collected until age 18 together with adult height, puberty onset, parental height, and treatment. The mean (SD) heights were modeled from birth to adulthood. The median±1 SD and ±2 SDs model-generated curves were compared with the French references. A linear model for bone maturation and a logistic regression model for the probability of short adult height were built. Results: Growth charts were built by sex for salt wasting (SW) and simple virilizing (SV) children treated before 1 year of age. In girls and boys, growth was close to that of the general French population up to puberty onset. There was almost no pubertal spurt and the mean adult height was shorter than that of the general population in girls (−1.2 SD, 156.7 cm) and boys (−1.0 SD, 168.8 cm). Advanced bone age at 8 years had a strong impact on the risk of short adult height (OR: 4.5 per year advance). Conclusions: The 8-year bone age is a strong predictor of adult height. It will help monitoring the growth of CAH-affected children.

scholarly journals Delayed Diagnosis of Congenital Adrenal Hyperplasia with Salt Wasting Due to Type II 3β-Hydroxysteroid Dehydrogenase Deficiency

2005 ◽  
Vol 90 (4) ◽  
pp. 2076-2080 ◽  
Author(s):  
Trine H. Johannsen ◽  
Delphine Mallet ◽  
Harriet Dige-Petersen ◽  
Jørn Müller ◽  
Katharina M. Main ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Delayed Diagnosis ◽  
Bone Age ◽  
Hydroxysteroid Dehydrogenase ◽  
Type Ii ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
21 Hydroxylase Deficiency ◽  
Premature Pubarche

Abstract Classical 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare cause of congenital adrenal hyperplasia. We report two sisters presenting with delayed diagnoses of classical 3β-HSD, despite salt wasting (SW) episodes in infancy. Sibling 1 was referred for premature pubarche, slight growth acceleration, and advanced bone age, whereas sibling 2 had no signs of virilization. At referral, increased 17α-hydroxyprogesterone associated with premature pubarche at first suggested a nonclassical 21-hydroxylase deficiency. Sequencing of the CYP21 gene showed both girls only heterozygotes (V281L mutation). This result, combined with SW in infancy, suggested a 3β-HSD deficiency because of increased dehydroepiandrosterone sulfate levels. Further hormonal studies showed markedly elevated Δ5-steroids, in particular 17α-hydroxypregnenolone greater than 100 nmol/liter (the clue to the diagnosis) and elevated Δ5-/Δ4-steroid ratios. Sequencing of the type II 3β-HSD gene documented that both girls were compound heterozygotes for T181I and 1105delA mutations. Retrospectively, elevated levels of 17α-hydroxyprogesterone were found on blood spots from Guthrie’s test. There is no previous report of the combination of SW and premature pubarche due to mutations in the type II 3β-HSD gene. Because neonatal diagnosis could have prevented life-threatening crises in these girls, this report further supports the benefits for neonatal screening for congenital adrenal hyperplasia whatever the etiology.

scholarly journals SAT-207 Adrenocortical Carcinoma in Untreated Congenital Adrenal Hyperplasia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Julia David ◽  
Lev Yagudayev ◽  
Robert Galagan
Keyword(s):  
Abdominal Pain ◽  
Congenital Adrenal Hyperplasia ◽  
Cortisol Level ◽  
Adrenocortical Carcinoma ◽  
Adrenal Mass ◽  
Dexamethasone Suppression Test ◽  
Adrenal Hyperplasia ◽  
Tumor Transformation ◽  
Suppression Test ◽  
Dexamethasone Suppression

Abstract Background: Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders characterized by a deficiency of various enzymes participating in steroid hormone synthesis. It occurs in 1 in 5000 to 1 in 15000 births. The most common (90-95%) cause of CAH is the absence of the enzyme 21-hydroxylase. We are presenting a case of a 34 year old male with untreated congenital adrenal hyperplasia due 21-hydroxylase deficiency and metastatic adrenocortical carcinoma. Case: A 34 year old male with a history of classic congenital adrenal hyperplasia (CAH) untreated since childhood presented with symptoms of right abdominal pain, anorexia and weight loss. His family history was significant for one brother diagnosed with CAH, father with liver and pancreatic cancer and another brother with colon cancer. After 2 weeks of treatment with NSAIDs for the pain, his abdominal pain worsened and patient also reported dyspnea with minimal exertion and dry cough. The patient was admitted to TUMC and his evaluation revealed a large right adrenal mass (17x11cm) with multiple liver and lung lesions suggestive of metastatic cancer. The adrenal mass was needle biopsied and pathology results were diagnostic of adrenal cortical carcinoma. His baseline morning cortisol level was 22.45 mcg/dL, ACTH 13.2 (n=7.2-63.3), androstenedione 291 ng/dL (n=27-152), 17-hydroxy progesterone 10,850 ng/dL (n=27-199), testosterone 140 mg/dL, renin 1.295 ng/ml/h (n=0.167-5.38), aldosterone unable to assay due to interference and LDH 2011 U/L (n=87-241). He failed an overnight 1mg dexamethasone suppression test with cortisol of 20.17 in the morning. During hospitalization, his clinical condition gradually deteriorated with hypotension, altered mental status, acute respiratory failure and acute liver failure with an AST 2787 units/L (n <39), ALT 399 (n=30-65) and ALP 1013 units/L (n=40-120). Oncology decided that the patient was a poor candidate for antineoplastic treatment therefore he was offered hospice care and eventually expired. Discussion: There have been reports of benign and malignant adrenal tumors in patients with CAH. It has been surmised that ACTH is the driver of adrenal tumor transformation in these patients. Our patient with adrenocortical carcinoma presented at a late stage with widespread metastases resulting in death. His elevated cortisol level occurred in association with low normal ACTH and the failed 1mg overnight dexamethasone suppression test are consistent with tumor production of cortisone. Considering that he had untreated CAH since childhood, we assume elevated ACTH levels were present until tumor transformation occurred.

scholarly journals A Case of Hepatocellular Adenoma with Elevated Serum PIVKA-II Level Presented with Right Lower Abdominal Pain.

2002 ◽  
Vol 63 (6) ◽  
pp. 1505-1509
Author(s):  
Masanobu WASHIDA ◽  
Tomohiko NISHIHIRA ◽  
Kei ISHIMARU ◽  
Takeshi KANEKO ◽  
Takamichi ISHII ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Elevated Serum ◽  
Lower Abdominal Pain ◽  
Hepatocellular Adenoma

scholarly journals Establishment of Clinical and Lab Algorithms for the Identification of Carriers of Mutations in CYP21A2 – A Study of 365 Children and Adolescents

2020 ◽  
Author(s):  
J. Meinel ◽  
T. Haverkamp ◽  
F. Wünsche ◽  
A. Richter-Unruh
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Children And Adolescents ◽  
Area Under The Curve ◽  
Bone Age ◽  
Adrenal Hyperplasia ◽  
Operating Characteristics ◽  
Study Objective ◽  
Combined Test ◽  
The Difference ◽  
17 Hydroxyprogesterone

Abstract Background Mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH) and are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood. Objective The study objective was to identify the most suitable of 12 different test algorithms and appropriate cut-off levels for that test to recognize patients with non-classical congenital adrenal hyperplasia (NCCAH) and carriers of clinically relevant mutations in CYP21A2. Method and Patients Between July 2006 and July 2015 ACTH-tests were conducted in 365 children and adolescents (Age 1–20 y) suspected to have NCCAH. As a reference, results from subsequent gene sequencing of CYP21A2 was used. Inclusion criteria that were used were premature pubarche with accelerated bone age, hyperandrogenism, hirsutism, or menstrual irregularities. Receiver operating characteristics (ROC) were plotted. Evaluated test algorithms were composed around 17OHP measurements by radioimmunoassays. The most suitable test was identified by the greatest area under the curve (AUC). Results Among the 12 tested algorithms, the sum of 30 min and 60 min stimulated 17OHP values (sum17OHPstim) showed the highest AUC of 0.774 for identifying heterozygous and bi-allelic mutations. A cut-off of 10.1 μg/l was advisable. Bi-allelic mutations only were best identified calculating the difference between 30 min and basal 17OHP values (Δ17OHP30). A cut-off of 9.4 μg/l was most effective. Conclusion Alternatively to the above mentioned cut-offs the difference of 60 min after stimulation to basal 17OHP (Δ17OHP60) can be used for the benefit of a combined test to identify both heterozygotes and bi-allelic patients. There are minimal decreases in sensitivity and specificity compared to an approach that applies two tests. However, it denotes a simpler approach in the clinical routine.

Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity

2019 ◽  
Vol 32 (6) ◽  
pp. 643-646 ◽  
Author(s):  
Reeti Chawla ◽  
Erica M. Weidler ◽  
Janett Hernandez ◽  
Gwen Grimbsy ◽  
Kathleen van Leeuwen
Keyword(s):  
Decision Making ◽  
Congenital Adrenal Hyperplasia ◽  
Shared Decision Making ◽  
Informed Decision ◽  
Female Infant ◽  
Sinus Surgery ◽  
Urogenital Sinus ◽  
Shared Decision ◽  
Adrenal Hyperplasia ◽  
Genital Ambiguity

Abstract Background Shared decision-making (SDM) is the process by which patients/families and providers make healthcare decisions together. Our team of multidisciplinary disorders of sex development (DSD) has developed an SDM tool for parents and female patients with congenital adrenal hyperplasia (CAH) and associated genital atypia. What is new Elective genital surgery is considered controversial. SDM in a patient with genital atypia will allow patient/family to make an informed decision regarding surgical intervention. Case presentation Our patient is a 2.5-year-old female with CAH and genital atypia. Initially, her parents had intended to proceed with surgery; however, after utilizing the SDM checklist, they made an informed decision to defer urogenital sinus surgery for their daughter. Conclusions We successfully utilized an SDM tool with parents of a female infant with CAH and genital atypia, which allowed them to make an informed decision regarding surgery for their daughter. Future directions include a prospective enrolling study to determine the generalizability and applicability of SDM with families of children diagnosed with CAH.

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