ADRENOGENITAL SYNDROME. 10 YEARS OF SCREENING IN OREL REGION. RESULTS

Pregnanetriol was not excreted by an infant (7 days old) who was later shown to have a defect in steroid 21-hydroxylase. However, the excretion of this compound increased during the following days (1.2 mg on the thirteenth day of life). A high excretion of 3β-hydroxy-Δ steroids was the most noticeable abnormality in steroid excretion noted on the seventh day of life (e.g., 3β, 16α-dihydroxy-5-pregnen-20-one, 15 mg; 3β, 21-dihydroxy-5-pregnen-20-one, 1.4 mg and 3β, 16α-dihydroxy-5-androsten-17-one, 7.4 mg). This high 3β-hydroxy-Δ steroid excretion results in difficulties in distinguishing a defect in 3β-hydroxy steroid dehydrogenase from a 21-hydroxylase deficiency. At the age of 14 months the principal steroids excreted were those predominant in other cases of 21-hydroxylase deficiency, viz. pregnanetriol and 5β-pregnane-3α, 17α, 20α-triol-11-one (11-oxo-pregnanetriol).

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Differential Diagnosis of Tumors in the Adrenogenital Syndrome

Clues in the Diagnosis of Non-tumoral Testicular Pathology ◽

10.1007/978-3-319-49364-0_7 ◽

2017 ◽

pp. 51-57 ◽

Cited By ~ 2

Author(s):

Manuel Nistal ◽

Pilar González-Peramato ◽

Álvaro Serrano

Keyword(s):

Differential Diagnosis ◽

Adrenogenital Syndrome

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THE ADRENOGENITAL SYNDROME

The Lancet ◽

10.1016/s0140-6736(52)91720-0 ◽

1952 ◽

Vol 260 (6726) ◽

pp. 197 ◽

Cited By ~ 1

Author(s):

Paul Bastenie

Keyword(s):

Adrenogenital Syndrome

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Juvenile Form of Adrenogenital Syndrome

BMJ ◽

10.1136/bmj.1.4079.501 ◽

1939 ◽

Vol 1 (4079) ◽

pp. 501-520 ◽

Cited By ~ 2

Author(s):

J. S. Richardson ◽

W. R. S. Doll

Keyword(s):

Juvenile Form ◽

Adrenogenital Syndrome

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COMPLEX ORPHAN PATHOLOGY: COMORBIDITY OF MUCOVISCIDOSIS AND CONGENITAL DYSFUNCTION OF ADRENAL GLANDS CORTEX (REFERENCES REVIEW AND OWN RESEARCH)

Wiadomości Lekarskie ◽

10.36740/wlek202008137 ◽

2020 ◽

Vol 73 (8) ◽

pp. 1790-1795

Author(s):

Mariana A. Ryznychuk ◽

Vasyl P. Pishak ◽

Тatiana V. Khmara ◽

Nataliia V. Bachuk-Ponych ◽

Valentyna N. Pidgirna ◽

...

Keyword(s):

Cystic Fibrosis ◽

Clinical Case ◽

Adrenal Glands ◽

Late Diagnosis ◽

Substitution Therapy ◽

Adrenogenital Syndrome ◽

Mixed Form ◽

Pathological Conditions ◽

Appropriate Therapy ◽

Viral Form

The aim: The clinical case was studied: comorbidity of mucoviscidosis and congenital dysfunction of adrenal glands cortex. Materials and methods: The clinical case of combined orphan pathology – cystic fibrosis and congenital dysfunction of adrenal glands cortex (adrenogenital syndrome) has been described. Clinical case: A 2-month child has been diagnosed with mucoviscidosis, of a mixed form, which was genetically confirmed. The proband and the father were found to be heterozygotes for the F508del mutation of the CFTR gene (the father suffers from mucoviscidosis). Congenital dysfunction of the adrenal glands, a viral form, was diagnosed when he was three years old. The child is currently receiving: Creon 100 000 units per day with eating, Colomycin 1 vial per day, Pulmozyme 2.5 mg/2.5 ml daily in the morning for inhalations, Ursofalk 600 mg every day constantly, Hydrocortisone 50 mg/day. Conclusions: This clinical case can be attributed to rare, as most such pathological conditions are usually diagnosed in maternity homes along with the prescription of appropriate therapy. This is an example of late diagnosis of the viral form of congenital adrenal dysfunction against the background of cystic fibrosis, indicating the need for earlier detection and timely introduction of substitution therapy to improve favourable prognosis for a disease.

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