Congenital adrenal hyperplasia

21:54 - 4 May , 2021

Disease

What is Congenital adrenal hyperplasia?

It is a group of hereditary conditions in which the patient does not have an enzyme that the adrenal glands require to generate aldosterone and cortisol, which are the hormones necessary for metabolic control, blood pressure, the immune system, and other important tasks in the body. In addition to the lack of the aforementioned hormones, this pathology can cause an overproduction of androgens, so one of the symptoms in women is genital virilescence. There are two types of congenital adrenal hyperplasia: Typical: It is the most serious and causes a condition called ambiguous genitalia, where girls show signs of masculinity, such as an enlarged clitoris, while boys do not show any alteration. In both cases, there is a cortisol and aldosterone deficiency that affects blood pressure, glucose levels, and stress tolerance, which can trigger an adrenal crisis with fatal consequences. Atypical: In general, there are no symptoms at birth, so it is usually diagnosed in adolescence or youth. Here there is only cortisol deficiency, so the female genitalia is not altered.

Symptoms

Typical: Symptoms appear 15 days after birth:
  • Feeding problems
  • Vomit.
  • Electrolyte imbalance.
  • Arrhythmia.
  • Early growth of pubic hair.
  • Accelerated development in childhood, but short stature in youth.
Atypical:
  • Altered or absent menstruation.
  • In women, deep voice, the appearance of facial and body hair.
  • Acne.
  • Early growth of pubic hair.
  • Accelerated development in childhood, but short stature in youth.

Diagnosis and treatment

There are tests to identify the genetic abnormality that causes congenital adrenal hyperplasia in fetuses, infants, and children. In adolescents and young people, the doctor will base a diagnosis on symptoms, clinical history, and physical examination, which will be confirmed through blood and urine tests, as well as genetic tests. Treatment will depend on the severity of the case and the type of congenital adrenal hyperplasia in question, but in most cases, the patient will be referred to an endocrinologist to establish the hormone replacement therapy necessary to restore adequate levels of affected hormones, by:
  • Cortisol replacement by corticosteroids.
  • Aldosterone replacement with mineralocorticoids to achieve electrolyte balance.
  • Salt supplements.
Periodic medical follow-up will be necessary to measure hormone levels, adjust doses, and prevent complications. At ABC Medical Center’s Internal Medicine Department, we offer health care services with the highest quality and safety, from the prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies of both chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.

Fuentes:

  • cun.es
  • medlineplus.gov
  • mayoclinic.org
  • msdmanuals.com
  • topdoctors.es
  • medigraphic.com
  • Hinojosa-Trejo MA, Arguinzoniz-Valenzuela SL, Herrera-Pérez LA, et al. Aspectos relevantes del tamiz neonatal para hiperplasia suprarrenal congénita. Acta Pediatr Mex. 2018;39(Suppl: 1):14-24.
  • Barrueta OT ,Collazo MT, Lantigua CP, et al. Detección de la mutación I172N en pacientes cubanos con hiperplasia suprarrenal congénita por insuficiencia de 21 hidroxilasa. Finlay. 2019;9(1):36-45.
  • Zurita-Cruz JN, Villasís-Keever MÁ, Damasio-Santana L, et al. Asociación de leptina con factores cardiometabólicos en escolares y adolescentes con hiperplasia suprarrenal congénita. Gac Med Mex. 2018;154(2):202-208.
  • Pérez SLA, Martínez RNR. Hiperplasia suprarrenal congénita por déficit de la 21 hidroxilasa. Presentación de un caso. Mediciego. 2013;19(Suppl: 1):.

						
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