[HTML][HTML] Clinical utility of laboratory developed mass spectrometry assays for steroid hormone testing

D French - Journal of Mass Spectrometry and Advances in the …, 2023 - Elsevier
It has long been recognized that immunoassays cannot accurately quantify steroid
hormones such as testosterone, estradiol, and aldosterone in certain patient populations …

Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis

Y Fujisawa, Y Masunaga, W Tanikawa… - The Journal of Steroid …, 2023 - Elsevier
Although 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency is diagnosed
when a testosterone/androstenedione (T/A-dione) ratio after human chorionic gonadotropin …

Towards Improved Steroid Hormone Analysis: The Shift from Immunoassays to Mass Spectrometry

B Deng, M Bi, Y Zheng, D Hussain, S Yang… - Journal of Analysis and …, 2024 - Springer
Steroid hormones, synthesized from cholesterol via cytochrome P450 enzymes, are
categorized into adrenocortical hormones and sex hormones. Their monitoring is crucial in …

A prospective study on disorders of sex development in Duhok city, Kurdistan region, Iraq: Genetic, etiology and clinical presentation

MM Hassan, AM Atrushi - Cellular and Molecular Biology, 2023 - cellmolbiol.org
Abstract Disorders of Sexual Development (DSD) encompass all types of intersex cases and
have been reported globally. However, in Iraq, studies related to DSD are scanty. The …

Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations

G Robevska, C Hanna, J Van Den Bergen… - Sexual …, 2023 - karger.com
Introduction: Steroid 5-alpha reductase deficiency (5α-R2D) is a rare condition caused by
genetic variants that reduce the activity of the enzyme that converts testosterone into …

New sensitive and specific methods for sex steroid measurements in rodent serum and tissues

M Nilsson - 2023 - gupea.ub.gu.se
Accurate measurement of sex steroids (androgens, estrogens, and progesterone) is
essential in research and clinical settings for common diseases including osteoporosis …

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency

K Akiba, K Aso, Y Hasegawa… - Journal of Pediatric …, 2021 - degruyter.com
Objectives 5α-reductase type 2 deficiency due to biallelic SRD5A2 variants is a common
form of 46, XY disorders of sex development. Case presentation A Chinese neonate …

Molecular and cytogenetic diagnosis of disorders/differences of sex development: molecular update of genes controlling sexual differentiation

ST Reddy - Middle East Journal of Medical Genetics, 2022 - journals.ekb.eg
Sex determination and differentiation is a unique overly complex biological process
controlled by a concerted action of a large network of genes, growth factors, hormones, and …

Clinical tools in the diagnosis of disorders of sex development: a switch from the hormonal to the genetics laboratory?

RA Rey - Advances in Laboratory Medicine/Avances en …, 2021 - degruyter.com
Traditionally, the vast majority of societies around the world have had a binary approach to
sex.“Girl or boy?” has typically been the first question about a newborn. This vision deeply …

[HTML][HTML] Herramientas clínicas en el diagnóstico del desarrollo sexual anómalo:¿ del análisis hormonal al análisis genético?

RA Rey - Advances in Laboratory Medicine/Avances en …, 2021 - degruyter.com
En la mayoría de las sociedades en todo el mundo se ha tenido una concepción binaria del
sexo.¿“Niña o niño”? suele ser lo primero que se pregunta sobre un recién nacido. Esta …