Dizygotic pregnancy as a possible mechanism of fetal gestation with a biallel mutation in the CYP11A1 gene: clinical case description

One of the variants of congenital dysfunction of the adrenal cortex is a deficiency of the enzyme P450scc, which catalyzes the first stage of steroidogenesis. This is a rare autosomal recessive disease, the classic manifestation of which is primary adrenal insufficiency with a deficiency of gluco-and mineralocorticoids and a violation of the synthesis of sex steroids, which usually leads to a complete lack of masculinization in patients with karyotype 46, XY and hypergonadotropic hypogonadism in both sexes. Previously, it was suggested That p450scc deficiency is incompatible with the normal course of pregnancy, since the enzyme is expressed in the placenta, where it is necessary for the synthesis of progesterone, the main pregnancy hormone, and, consequently, the birth of a child with A p450scc deficiency is impossible. However, the literature describes clinical cases of p450scc deficiency with partially preserved enzyme function, which explains the normal course of pregnancy. Whereas cases of confirmed p450scc deficiency with zero enzyme activity are unique, not being explained until now. We present a description of severe p450scc deficiency in a child born from a dizygotic twin pregnancy in which the second Sib was healthy. It is possible that the preserved hormonal function of the second placenta and (or) treatment with progesterone analogs during gestation contributed to gestation in this rare form of steroidogenesis disorder.

Management of Cancer Cachexia: ASCO Guideline

PURPOSE To provide evidence-based guidance on the clinical management of cancer cachexia in adult patients with advanced cancer. METHODS A systematic review of the literature collected evidence regarding nutritional, pharmacologic, and other interventions, such as exercise, for cancer cachexia. PubMed and the Cochrane Library were searched for randomized controlled trials (RCTs) and systematic reviews of RCTs published from 1966 through October 17, 2019. ASCO convened an Expert Panel to review the evidence and formulate recommendations. RESULTS The review included 20 systematic reviews and 13 additional RCTs. Dietary counseling, with or without oral nutritional supplements, was reported to increase body weight in some trials, but evidence remains limited. Pharmacologic interventions associated with improvements in appetite and/or body weight include progesterone analogs and corticosteroids. The other evaluated interventions either had no benefit or insufficient evidence of benefit to draw conclusions on efficacy. Limitations of the evidence include high drop-out rates, consistent with advanced cancer, as well as variability across studies in outcomes of interest and methods for outcome assessment. RECOMMENDATIONS Dietary counseling may be offered with the goals of providing patients and caregivers with advice for the management of cachexia. Enteral feeding tubes and parenteral nutrition should not be used routinely. In the absence of more robust evidence, no specific pharmacological intervention can be recommended as the standard of care; therefore, clinicians may choose not to prescribe medications specifically for the treatment of cancer cachexia. Nonetheless, when it is decided to trial a drug to improve appetite and/or improve weight gain, currently available pharmacologic interventions that may be used include progesterone analogs and short-term (weeks) corticosteroids.

Oral Allylestrenol: A Pregnancy-supporting Progestogen

ABSTRACT Allylestrenol is a synthetic progestogen that has been in therapeutic use in the management of mild to severe cases of certain obstetric complications, like selected forms of miscarriage/abortion, threatened preterm labor, intrauterine growth restriction (IUGR), and gestational hypertension. Natural progesterone may be used for treatment; however, it has the property of being rapidly metabolized in the liver besides having little or no oral activity. While there are many other synthetic and orally administrable progesterone analogs in the market, most of them, which are 19-nortestosterone derivatives, possess various undesirable side effects like symptoms of intolerance and a tendency to virilization. Allylestrenol, despite being a 19-nortestosterone derivative, has no known side effects including those attributed to the other members of its class, which is theorized to be due to subtle differences in its chemical structure, giving it a unique mechanism of action consisting of a triple effect—trophoblastic, placentotropic, and β2-adrenergic. The present review is mainly aimed at understanding the whys and wherefores behind the molecule's moderate efficacy and remarkable safety along with examining the data from various studies. How to cite this article Malhotra N, Garg R, Malhotra N, Malhotra J. Oral Allylestrenol: A Pregnancy-supporting Progestogen. J South Asian Feder Obst Gynae 2017;9(4):297-303.