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Novel compound heterozygous CYP17A1 mutations identified in a family with two siblings affected by 17α-hydroxylase/17,20-lyase deficiency.
Steroids
January 2025
Department of Endocrinology, Sir Run Run Hospital, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic address:
Background: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), caused by mutations in the CYP17A1 gene. It typically manifests clinically as variable degree of hypertension, hypokalemia, and disorders of sexual development (DSD), which can include abnormal sexual differentiation in males and sexual infantilism in females. Over 100 mutations in CYP17A1 have been identified, with most cases involving missense mutations or small deletions.
View Article and Find Full Text PDFPioneering robotic-assisted Davydov vaginoplasty for Mayer-Rokitansky-Küster-Hauser syndrome.
BMJ Case Rep
January 2025
Obstetrics and Gynaecology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder marked by the congenital absence of the uterus and vagina. Patients with this condition often present with primary amenorrhoea and normal secondary sexual characteristics. The diagnosis of MRKH syndrome has profound implications for a patient's fertility and psychological well-being, necessitating a multidisciplinary approach that includes psychosocial support.
View Article and Find Full Text PDF[Hirsutism: a common problem; when to consider rare causes?].
Ned Tijdschr Geneeskd
January 2025
St. Antoniusziekenhuis, Nieuwegein. Afd. Interne Geneeskunde.
Excessive hair growth is a common and distressing complaint in women. It is imperative to differentiate excessive hair growth from hirsutism with possible other signs of virilization. Hirsutism is commonly attributed to polycystic ovary syndrome (PCOS).
View Article and Find Full Text PDFDifferences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular hormones, leading to varying degrees of under-virilization. A 19-year-old phenotypically normal female from Kakamega, Kenya, presented with primary amenorrhea.
View Article and Find Full Text PDFKisspeptin as a test of hypothalamic dysfunction in pubertal and reproductive disorders.
Andrology
January 2025
Section of Endocrinology and Investigative Medicine, Imperial College London, London, UK.
The hypothalamic-pituitary-gonadal axis is regulated by the gonadotropin-releasing hormone pulse generator in the hypothalamus. This is comprised of neurons that secrete kisspeptin in a pulsatile manner to stimulate the release of GnRH, and, in turn, downstream gonadotropins from the pituitary gland, and subsequently sex steroids and gametogenesis from the gonads. Many reproductive disorders in both males and females are characterized by hypothalamic dysfunction, including functional disorders (such as age-related hypogonadism, obesity-related secondary hypogonadism, hyperprolactinemia, functional hypothalamic amenorrhea and polycystic ovary syndrome), structural pathologies (such as craniopharyngiomas or radiation or surgery-related hypothalamic dysfunction), and pubertal disorders (constitutional delay of growth and puberty and congenital hypogonadotropic hypogonadism).
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