Psychosexual Outcome Among Iranian Individuals With 5α-Reductase Deficiency Type 2 and Its Relationship With Parental Sexism

Abstract. An 18 year-old 46,XY female-reared patient with incomplete male pseudohermaphroditism type 2 (5α-reductase deficiency) was studied. She had a male habitus, Wolffian ducts derivatives, normal testes and small phallus; there were no Mullerian duct derivatives nor gynaecomastia. Clinical and genetic data were typical of the diagnosis which was corroborated by endocrinological studies. Normal LH, FSH, testosterone (T) and oestradiol and decreased dihydrotestosterone (DHT) plasma levels before and after hCG administration were found; the T:DHT ratio was highly increased. The histopathological studies of a testis biopsy showed a normal adult male pattern, and the meiotic chromosomes were interpreted as normal. After assessment of her psychosexual orientation, successful surgical and medical therapy to maintain and improve her femaleness was effectuated. The post-pubertal gender role switch commonly observed in these female-reared patients is discussed.

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Faculty Opinions recommendation of Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.12909960.14201055 ◽

2011 ◽

Author(s):

David E Sandberg

Keyword(s):

International Experience ◽

Molecular Heterogeneity ◽

Reductase Deficiency ◽

5Α Reductase Deficiency

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Iron Deficiency and Obesity – Are we Diagnosing with Appropriate Indicators?

Acta Médica Portuguesa ◽

10.20344/amp.8916 ◽

2018 ◽

Vol 31 (9) ◽

pp. 478 ◽

Cited By ~ 2

Author(s):

Ana Margarida Monteiro ◽

Vera Fernandes ◽

Cláudia Matta-Coelho ◽

Sílvia Paredes ◽

Maria Lopes Pereira ◽

...

Keyword(s):

Type 2 Diabetes ◽

Metabolic Syndrome ◽

Body Mass Index ◽

Iron Deficiency ◽

Body Mass ◽

Obese Patients ◽

Exclusion Criteria ◽

Multidisciplinary Consultation ◽

Deficiency Type

Introduction: We aim to define the iron deficiency prevalence and eventual differences between obese patients with and without metabolic syndrome.Material and Methods: Analysis of patients evaluated at multidisciplinary consultation of obesity in our institution between 2013 and 2015 (n = 260). Iron deficiency: ferritin levels < 15 ng/mL. Exclusion criteria: prior bariatric surgery; lack of ferritin or hemoglobin determinations.Results: We analyzed data from 215 patients (84.2% female) with a mean age of 42.0 ± 10.3 years. The median body mass index was 42.5 (40.0 - 46.8) kg/m2 and 52.1% had metabolic syndrome. Iron deficiency was present in 7.0%, with no differences between genders or between patients with or without metabolic syndrome. Hypertension was associated with lower prevalence of iron deficiency. Type 2 diabetes and hypertension patients had higher levels of ferritin. The multivariate analysis showed that metabolic syndrome and increasing body mass index were predictive of higher risk of iron deficiency while hypertension predicted lower odds of iron deficiency.Discussion: The prevalence of iron deficiency was similar in other published studies. Iron deficiency may be underdiagnosed if based only on ferritin concentrations. In our study, diabetes and hypertension appear to contribute to the increase in ferritin levels described in obesity.Conclusion: Ferritin may not be a reliable index for evaluating iron stores in obese patients, particularly when associated with comorbidities such as type 2 diabetes and hypertension. Further studies are needed to guide the diagnosis and iron supplementation in these patients.

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