Three siblings with androgen insensitivity syndrome.

THREE SIBLINGS WITH ANDROGEN INSENSITIVITY SYNDROME. Ethiop Med J. 2016 10;54(4):229-36 Authors: Teklu S, Schneider J, Terefework Z, Shimeles B, Abraham S, Bonsa E Abstract Genetic, gonadal, phenotypic and psychological genderis the basis for gender assignment to an individual. Derangement in genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors will lead to abnormal development of the external and internal genitalia. Failure to respond for the endogenous androgen, Androgen Insensitivity Syndrome is one of the common causes of genital ambiguity and intersex. In this case series we have presented three girls from a family of seven children visited Tikur Anbassa Specialized Hospital (TASH) with a complaint of primary amenorrhea and diagnosed to have androgen insensitivity syndrome. Their clinical presentation, relevant laboratory and histopathologic findings, karyotype and genetic analysis results are summarized. Potential causes and treatment options are discussed. PMID: 29115170 [PubMed]
Source: Ethiopian Medical Journal - Category: African Health Tags: Ethiop Med J Source Type: research

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Authors: PMID: 32053320 [PubMed - in process]
Source: American Family Physician - Category: Primary Care Tags: Am Fam Physician Source Type: research
Asherman’s syndrome (AS) is characterized by intrauterine adhesion or fibrosis resulting from damage to the endometrium, often leading to amenorrhea, infertility, or recurrent pregnancy loss. Although various therapeutic strategies for AS have been proposed, the options remain limited. New strategies such as bone marrow-derived mesenchymal stem cell (BM-MSC) therapy aim to potentiate the intrinsic capacity of endometrial regeneration. However, BM-MSC therapy has not been widely adopted mainly because it involves invasive and expensive procedures such as bone marrow biopsy and cell storing. On the other hand, platelet...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Authors: Dural Ö, Taş İS, Akhan SE Abstract For girls with physical and developmental disabilities and their families/caregivers, puberty and menstruation can present significant problems such as vulnerability, abuse risk, unintended pregnancies, difficulties with managing menstrual hygiene, abnormal uterine bleeding, dysmenorrhea, behavioral difficulties/mood concerns or changes in seizure pattern. Healthcare providers may have an important and positive impact for both the adolescents and their families/caregivers during this stage of life. Whether menstrual manipulation is indicated should be decided after...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
Authors: Sophie Gibson ME, Fleming N, Zuijdwijk C, Dumont T Abstract Functional hypothalamic amenorrhea (FHA) is a common cause of amenorrhea in adolescent girls. It is often seen in the setting of stress, weight loss, or excessive exercise. FHA is a diagnosis of exclusion. Patients with primary or secondary amenorrhea should be evaluated for other causes of amenorrhea before a diagnosis of FHA can be made. The evaluation typically consists of a thorough history and physical examination as well as endocrinological and radiological investigations. FHA, if prolonged, can have significant impacts on metabolic, bone, c...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
ConclusionAndrogen Insensitivity Syndrome requires expert and sympathetic handling. Close collaboration between surgeon, gynaecologist and psychologist is essential for proper management of complete androgen insensitivity syndrome.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
CONCLUSIONS: Until a few years ago, patients with an absolute uterine factor of infertility, including women with MRKH syndrome, had a real choice of only two equally controversial options giving a chance for motherhood - surrogacy and adoption. However, modern transplantation has shown that a third option - a uterine transplant - exists and is available. PMID: 32016956 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
ConclusionsChildren with cancer may be at risk for gonadal insufficiency. Ovarian tissue cryopreservation is mostly the only technique that can be offered for young girls. The procedure is safe and well accepted by the girls.
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research
Abstract BACKGROUND: A test that helps predict the time to the final menstrual period (FMP) has been sought for many years. OBJECTIVE: To assess the ability of Anti-Mullerian Hormone (AMH) measurements to predictions the time to FMP. DESIGN: Prospective longitudinal cohort study. SETTING: The Study of Women's Health Across the Nation. PARTICIPANTS AND MEASUREMENTS: AMH and FSH were measured in 1537 pre- or early perimenopausal women, mean age 47.5 ± 2.6 years at baseline, then serially until 12 months of amenorrhea occurred. AMH was measured using a two-site ELISA with a detection limit ...
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research
AbstractIt is estimated that one in 100 men have azoospermia, the complete lack of sperm in the ejaculate. Currently,  ~ 20% of azoospermia cases remain idiopathic. Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. High genetic heterogeneity due to the compl exity of spermatogenesis and testicular function, lack of non-consanguineous familial cases and confirmatory studies challenge the field. The reported monogenic defects cause syndromic NOA phenotypes p...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
Conclusions The menstrual experience of individuals with DSD negatively affects their quality of life. The women with DSD in this study showed a generally poor knowledge of menarche, menstruation, and puberty, indicating that their parents had ignored the initial symptoms of DSD. DSD were only recognized at puberty because of the development of ambiguous physical traits and of the onset of menstruation in men and the confirmation of amenorrhea in women.
Source: Journal of Nursing Research - Category: Nursing Tags: ORIGINAL ARTICLES Source Type: research
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