Adrenal hypoplasia congenita – an uncommon reason of primary adrenal insufficiency

2010 ◽  
Vol 71 (4) ◽  
pp. 309-313 ◽  
Author(s):  
M. Fichna ◽  
M. Żurawek ◽  
P. Gut ◽  
J. Sowiński ◽  
J. Nowak
Keyword(s):  
Adrenal Insufficiency ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

scholarly journals Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

2015 ◽  
Vol 7 (3) ◽  
Author(s):  
Marta Loureiro ◽  
Filipa Reis ◽  
Brígida Robalo ◽  
Carla Pereira ◽  
Lurdes Sampaio
Keyword(s):  
Adrenal Insufficiency ◽  
Replacement Therapy ◽  
Hypogonadotropic Hypogonadism ◽  
Delayed Puberty ◽  
Adrenal Crisis ◽  
Testosterone Replacement Therapy ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia ◽  
Low Levels

Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC) was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in <em>NR0B1</em> gene (c.1292delG), confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in <em>NR0B1</em> gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

Frequency of hypoglycemia in children with adrenal insufficiency

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S275-S278 ◽  
Author(s):  
E. Artavia-Loria ◽  
J.L. Chaussain ◽  
P.F. Bougnères ◽  
J.C. Job
Keyword(s):  
Plasma Concentration ◽  
Adrenal Insufficiency ◽  
Plasma Cortisol ◽  
Neonatal Period ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Primary Adrenal Insufficiency ◽  
Congenital Adrenal Hypoplasia ◽  
Basal Plasma ◽  
Adrenal Hypoplasia

Abstract The frequency of hypoglycemia in 165 children with primary adrenal insufficiency, 118 of whom had Congenital Adrenal Hyperplasia and 47 Addison's Disease, was 18 %. Half of the hypoglycemic episodes occurred in the neonatal period. Hypoglycemia was isolated in 13 children, revealing the disease in 4 newborns with Congenital Adrenal Hypoplasia and in a boy with 11 B Hydroxylase deficiency. Basal plasma cortisol levels were significantly lower in those of subjects who experienced hypoglycemia ( 47.1 ± 28.6 ng/ml vs. 106.0 ± 86.6 ng/ml, p< 0.001). A significant correlation ( p < 0.001) was found between the plasma concentration of glucose and cortisol at time of hypoglycemia.

scholarly journals Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism

2020 ◽  
Vol 5 (2) ◽  
Author(s):  
Yutaka Hasegawa ◽  
Yoshihiko Takahashi ◽  
Yuichiro Kezuka ◽  
Wataru Obara ◽  
Yoichiro Kato ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Missense Mutation ◽  
Target Genes ◽  
Late Onset ◽  
Hypogonadotropic Hypogonadism ◽  
Skin Pigmentation ◽  
Hydrophobic Core ◽  
Testicular Microlithiasis ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Abstract Objective X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism (HHG) caused by mutations of the NR0B1/DAX1 gene. We aimed to search for the presence of any NR0B1/DAX1 gene mutations in a referred patient and to further characterize the phenotypes of the identified mutation. Case Presentation Herein, we report a Japanese patient with a novel missense mutation of the NR0B1/DAX1 gene resulting in adult-onset AHC and HHG. The patient was referred with diffuse skin pigmentation at 28 years of age, presented partial adrenal insufficiency and had undiagnosed incomplete HHG. Urological examination revealed severe oligospermia and testicular microlithiasis. Results The NR0B1/DAX1 gene mutation was identified by exome sequencing as a novel missense mutation (c.884A&gt;T, p.Leu295His). We conducted in silico modeling of this mutant NR0B1/DAX1 protein (p.Leu295His) which affected the conserved hydrophobic core of the putative ligand-binding domain (LBD). In addition, functional analysis revealed that this mutant showed a decreased ability as a transcriptional repressor to suppress target genes, such as STAR and LHB. Furthermore, this mutant showed functionally impaired repression of steroidogenesis in human adrenocortical H295R cells. Conclusions We identified a novel missense mutation of the NR0B1/DAX1 gene in a patient suffering from late-onset AHC and HHG, who presented with oligospermia and testicular microlithiasis. This mutant NR0B1/DAX1 protein was found to have reduced repressor activity, according to in vitro studies, clinically consistent with the patient’s phenotypic features.

scholarly journals Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: Case report

2014 ◽  
Vol 142 (11-12) ◽  
pp. 728-731 ◽  
Author(s):  
Jasmina Durkovic ◽  
Tatjana Milenkovic ◽  
Nils Krone ◽  
Silvia Parajes ◽  
Bojana Mandic
Keyword(s):  
Adrenal Insufficiency ◽  
Failure To Thrive ◽  
Severe Hypoglycemia ◽  
Maternal Serum ◽  
Second Trimester ◽  
Adrenal Hypoplasia Congenita ◽  
Postnatal Diagnosis ◽  
Cheap Method ◽  
Adrenal Hypoplasia

Introduction. X-linked adrenal hypoplasia congenita (AHC) is a rare cause of adrenocortical insufficiency. Early postnatal diagnosis may prevent severe hypoglycemia, Addisonian crises and death. Low maternal estriol (E3) levels in the second trimester of pregnancy could indicate the possibility that the fetus suffers from a disorder that causes adrenal insufficiency. Suspicion is based on the fact that E3 originates from dehydroepiandrosterone (DHEA) synthesized in the fetal adrenals. In case of adrenal insufficiency, the impaired production of fetal DHEA leads to a subsequent reduction of E3 concentrations in maternal serum. There are only a few reports of AHC suspected prenatally due to low maternal E3 levels. Case Outline. We describe two brothers with adrenal insufficiency due to AHC. The older brother was admitted to the hospital at the age of 33 days due to failure to thrive, vomiting, and dehydration. Genetic analysis revealed a hemizygous mutation in DAX-1 gene, thus confirming the diagnosis of ACH. The same mutation was detected in his mother. In the second pregnancy, E3 concentrations were determined from maternal serum. Estriol levels during the second trimester were extremely low suggesting the diagnosis of AHC. The diagnosis was confirmed during the neonatal period by genetic testing, and replacement therapy was started at the age of 10 days. This boy never experienced an adverse episode such as hypoglycemia or adrenal crises. Conclusion. Since determination of E3 is a simple, sensitive, noninvasive and cheap method, its use as an obligatory prenatal screening test should be accepted as a standard practice in Serbia.

scholarly journals Clinical polymorphism of congenital X-linked adrenal hypoplasia

2009 ◽  
Vol 55 (2) ◽  
pp. 15-18
Author(s):  
E M Orlova ◽  
M A Kareva
Keyword(s):  
Adrenal Insufficiency ◽  
Autosomal Recessive ◽  
Intrauterine Growth Retardation ◽  
Hypogonadotropic Hypogonadism ◽  
Primary Adrenal Insufficiency ◽  
Intrauterine Growth ◽  
Congenital Adrenal Hypoplasia ◽  
Genital Structure ◽  
Adrenal Hypoplasia ◽  
Autosomal Recessive Manner

Congenital adrenal hypoplasia is a rare clinical variant of primary adrenal insufficiency. Two forms of this disease are known, one of which is inherited in an autosomal recessive manner (including IMAGe syndrome - a combination of adrenal hypoplasia with intrauterine growth retardation, metaphysical dysplasia and abnormal genital structure, OMIM 300290), and the other has X-linked nature of inheritance (DAX-1 gene defect). X-linked adrenal hypoplasia is relatively more common and studied in more detail.Congenital X-linked adrenal hypoplasia is manifested by a combination of primary adrenal insufficiency and hypogonadotropic hypogonadism and is caused by defects in the DAX-1 gene (measurement-sensitive sex reversal, adrenal hypoplasia congenital, critical region on the X chromosome, gene-1).

scholarly journals Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Sourabh Verma ◽  
Sheryl Purrier ◽  
Emily Breidbart ◽  
John G. Pappas ◽  
Pradeep V. Mally ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Adrenal Insufficiency ◽  
Diaphragmatic Hernia ◽  
Neonatal Seizure ◽  
Postoperative Phase ◽  
Severe Hyponatremia ◽  
Genetic Syndrome ◽  
Adrenal Hypoplasia Congenita ◽  
First Case ◽  
Adrenal Hypoplasia

Congenital diaphragmatic hernia (CDH) in neonates may occur as an isolated finding, in association with other anomalies, or as part of a genetic syndrome. We report the first case of an infant with CDH who presented with hyponatremic seizures due to adrenal hypoplasia congenita (AHC). The patient underwent repair of CDH defect. After an uncomplicated postoperative course while on discharge planning, he developed a seizure episode associated with severe hyponatremia and hyperkalemia. Extensive diagnostic workup revealed an NR0B1 gene variant confirming the diagnosis of X-linked AHC. The patient was eventually discharged home on hydrocortisone, fludrocortisone, and salt supplements. There are a few case reports of adrenal insufficiency in neonates with CDH, manifesting with symptoms before and immediately after reparative surgery. Clinical presentation of our patient was unique in manifesting as neonatal seizure secondary to severe hyponatremia after a stable postoperative phase. The patient’s electrolytes and hemodynamic status remained stable before, during, and after surgery for CDH. This case underlines the importance of taking detailed family history and continued vigilance for signs and symptoms of adrenal insufficiency in infants with repaired CDH by pediatricians and intensivists.

scholarly journals Presentation of Primary Adrenal Insufficiency in Childhood

2011 ◽  
Vol 96 (6) ◽  
pp. E925-E928 ◽  
Author(s):  
Susan Hsieh ◽  
Perrin C. White
Keyword(s):  
Adrenal Insufficiency ◽  
Chart Review ◽  
Clinical Symptoms ◽  
Tertiary Care ◽  
Retrospective Chart Review ◽  
Signs And Symptoms ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Hypoplasia ◽  
Glucocorticoid Deficiency ◽  
Rule Out

Context: Primary adrenal insufficiency is usually diagnosed in infancy or adulthood, and cases presenting in childhood have not been systematically reviewed. Objective: Our objective was to determine etiologies, signs, and symptoms of primary adrenal insufficiency presenting in childhood. Design and Setting: We conducted a retrospective chart review at a tertiary-care pediatric hospital. Patients: Patients were children with corticoadrenal insufficiency, glucocorticoid deficiency, or mineralocorticoid deficiency. Results: Seventy-seven cases were identified in 1999–2010. Thirty-five had congenital adrenal hyperplasia (CAH) and were not reviewed further. Forty-two patients (20 diagnosed at our institution) had primary adrenal insufficiency. These had etiologies as follows: autoimmune (18), autoimmune polyendocrinopathy syndrome (an additional five), ACTH resistance (four), adrenoleukodystrophy (three), adrenal hypoplasia congenita (two), adrenal hemorrhage (two), IMAGe syndrome (one), and idiopathic (two). Of 20 patients diagnosed at our institution, two were being monitored when adrenal insufficiency developed and were not included in the analysis of presenting signs and symptoms: 13 of 18 patients were hypotensive; 12 of 18 had documented hyperpigmentation. Hyponatremia (&lt;135 mEq/liter) occurred in 16 of 18. However, hyperkalemia (&gt;5.0 mEq/liter) was noted in only nine. Hypoglycemia and ketosis were documented in four of 15 and four of six patients in whom it was sought, respectively. Fifteen patients underwent cosyntropin stimulation testing with median baseline and stimulated cortisol of 1.1 and 1.2 μg/dl, respectively. ACTH and renin were markedly elevated in all patients. Conclusions: Hyperkalemia is not a consistent presenting sign of primary adrenal insufficiency in childhood, and its absence cannot rule out this condition. A combination of chronic or subacute clinical symptoms, hypotension, and hyponatremia should raise suspicion of adrenal insufficiency.

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