Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

Khanal, Deepa; Mandal, Deependra; Phuyal, Rajan; Adhikari, Uttara

doi:10.31729/jnma.4811

Cited by 3 publications

(1 citation statement)

References 8 publications

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“… 14 Unlike in males it might go undiagnosed as resultant is male genitalia. 15 As our case was non-compliant with medications for 2 days, he presented with typical symptoms of adrenal crisis such as diarrhoea, vomiting and seizures. His lab results with hyperkalemia, hyponatremia, metabolic acidosis, and hypoglycemia were consistent with the diagnosis of Adrenal crisis.…”

Section: Discussionmentioning

confidence: 85%

Acute Gastroenteritis Induced Adrenal Crisis in a patient with Congenital Adrenal Hyperplasia: A Case Report

Chapagain

Adhikari

et al. 2023

J Nepal Med Assoc

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Congenital Adrenal Hyperplasia is a group of autosomal recessive diseases due to deficiencies of enzymes involved in steroidogenesis. If not diagnosed and treated adequately, Congenital Adrenal Hyperplasia can lead to an acute adrenal crisis with hemodynamic collapse. Acute stressors and steroid insufficiency precipitate an adrenal crisis. The major clinical features are hypotension and volume depletion. Nonspecific symptoms such as fatigue, lack of energy, anorexia, nausea, vomiting, and abdominal pain are common. We report a case of a 3-year male previously diagnosed with congenital adrenal hyperplasia in adrenal crisis secondary to medicine noncompliance and gastroenteritis. The diagnosis was based on the clinical history and biochemical investigations. After initial resuscitation was managed; lifelong oral prednisolone and fludrocortisone were prescribed.

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Section: Discussionmentioning

confidence: 85%

Acute Gastroenteritis Induced Adrenal Crisis in a patient with Congenital Adrenal Hyperplasia: A Case Report

Chapagain

Adhikari

et al. 2023

J Nepal Med Assoc

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Sonographic measure techniques of fetal penile length

Soto¹,

González²,

López-Pérez³

et al. 2020

Obstet Gynecol Sci

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Postnatal penile length is a reliable, standardized, and widely used marker for the diagnosis of genitourinary pathology, as well as genetic and hormonal disorders. In contrast, prenatal diagnosis has not been developed equally and there is a lack of relevant literature. Our objective is to review the studies on fetal penile length, and apply findings to clinical practice. Although the most used technique is the outer penile length, there is no consensus regarding the appropriate technique for prenatal measurement. Several reports have provided reference data with high correlation. However, important issues like poor correlation with post-natal measures or presence of confounding variables are still present. Diagnosis of both a micropenis and macropenis can indicate related pathologies, and this information may benefit parental counseling and facilitate fetal management. Therefore, it is necessary to carry out prospective studies that provide reliable normative data.

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Hiperplasia suprarrenal congénita con crisis salina en un recién nacido

Vásquez Triminio,

Antúnez Williams,

Hernández Portillo

2024

BJM

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Introducción: La esteroidogénesis suprarrenal es un proceso complejo y secuencial que involucra a una serie de enzimas que actúan sobre el colesterol y determinan la síntesis mineralocorticoides, glucocorticoides, andrógenos y estrógenos. La hiperplasia suprarrenal congénita se presenta en 1:9500 a 1:20000 nacidos vivos como un trastorno autosómico recesivo que conlleva a mutación en los genes que codifican las enzimas para el proceso de la biosíntesis de esteroides suprarrenales; en mayor frecuencia ocurre por deficiencia de la enzima 21-alfa hidroxilasa. Las intervenciones incluyen el cribado neonatal temprano para evitar crisis de pérdida de sal y muerte neonatal; terapia de reemplazo hormonal; apoyo psicológico y opciones de cirugía en casos específicos para asignación de sexo. Caso clínico: Neonato de 5 días, hipoactivo, sin antecedentes familiares de enfermedad genética. Signos vitales dentro de parámetros normales para la edad, examen físico de genitales externos correspondiente a Prader 4, presencia de falo, labios mayores escrotalizados e hiperpigmentados, no se palpan gónadas. Ultrasonografía reporta ambas glándulas suprarrenales aumentadas de tamaño, se visualiza útero, ambos ovarios con imagen quística, no se observan testículos. Perfil hormonal: elevación de 17-alfa hidroxiprogesterona, adrenocorticótropa, testosterona y disminución de cortisol. Química sanguínea: creatinina normal, nitrógeno ureico elevado. Electrolitos: hiponatremia e hiperpotasemia. Se trata con dosis de estrés de esteroides por crisis salina con buena respuesta. Conclusiones: La hiperplasia suprarrenal congénita es un trastorno poco frecuente, pero susceptible de detección y tratamiento neonatal temprano con terapia de reemplazo hormonal, específicamente esteroides, que ha demostrado disminuir el riesgo de complicaciones graves.

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Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

Cited by 3 publications

References 8 publications

Acute Gastroenteritis Induced Adrenal Crisis in a patient with Congenital Adrenal Hyperplasia: A Case Report

Acute Gastroenteritis Induced Adrenal Crisis in a patient with Congenital Adrenal Hyperplasia: A Case Report

Sonographic measure techniques of fetal penile length

Hiperplasia suprarrenal congénita con crisis salina en un recién nacido

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