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Endocrine Disorders, Contraception, and Hormone Therapy during Pregnancy
Published in “Bert” Bertis Britt Little, Drugs and Pregnancy, 2022
Methyltestosterone is a synthetic derivative of testosterone, the primary endogenous androgen. More than a dozen female infants were born to women treated with methyltestosterone during pregnancy, and they all had varying degrees of virilization of the external genitalia (clitoral enlargement and labioscrotal fusion) (Grumbach and Ducharme, 1960; Schardein, 2000). Paralleling other androgenic agents, clitoral enlargement may be induced by exposure to methyltestosterone throughout the postembryonic period, but labioscrotal fusion seems restricted to the period between the 8th and 13th weeks of gestation, and the degree of virilization appears dose related. Successful surgical correction of the defects associated with virilization is available. Sexual maturation seems normal, while menarche in virilized girls seems close to the median, following a healthy course.
Skin problems in infancy and old age
Published in Rashmi Sarkar, Anupam Das, Sumit Sethi, Concise Dermatology, 2021
It is not uncommon for infants a few months old to develop seborrhoea, comedones, superficial papules, and pustules on the face (Figure 14.2). Deep inflammatory nodules or cysts are very uncommon but occur rarely. These maternal androgens cause the infant’s sebaceous glands to enlarge and become more active. When the disorder develops after infancy and is severe, the possibility of virilization due to an endocrine tumor or adrenocortical hyperplasia has to be considered. Other signs of androgen overactivity, such as precocious muscle development and male distribution of facial and body hair, should be sought as indicators of this much more serious problem. Although the disorder usually subsides within a few weeks, it can be unpleasantly persistent.
Skin problems in infancy and old age
Published in Ronald Marks, Richard Motley, Common Skin Diseases, 2019
It is not uncommon for infants a few months old to develop seborrhoea, comedones, superficial papules and pustules on the face (Fig. 16.5). Deep inflammatory nodules or cysts are very uncommon but do occur rarely. This infantile acne has no special significance, other than that maternal androgens have caused the infant’s sebaceous glands to enlarge and become more active. When the disorder develops in later infancy and is severe, the possibility of virilization due to an endocrine tumour or adrenocortical hyperplasia has to be considered. Other signs of androgen overactivity, such as precocious muscle development and male distribution of facial and body hair, should be sought as indicators of this much more serious problem. Although the disorder usually subsides within a few weeks, it can be unpleasantly persistent.
Diagnostic work-up in paediatric and adolescent patients with adnexal masses: an evidence-based approach
Published in Journal of Obstetrics and Gynaecology, 2021
Milan Terzic, Agnese Maria Chiara Rapisarda, Luigi Della Corte, Rahul Manchanda, Gulzhanat Aimagambetova, Melanie Norton, Simone Garzon, Gaetano Riemma, Cara Robinson King, Benito Chiofalo, Antonio Cianci
Adnexal masses in the paediatric population may present with vague symptoms that are often more difficult to diagnose and differentiate that in adult patients. Abdominal pain is the typical presenting symptom of ovarian tumours (57–78%), followed by a palpable abdominal or pelvic mass (46–56%) (Péroux et al. 2015). Other possible symptoms are distended abdomen (39%), nausea/vomiting (36%), fever (12%), early puberty (7%), virilization (3–5%) and haemorrhagic shock (2.5%) (Péroux et al. 2015). A symptom of torsion, haemorrhage, or rupture of ovarian tumours, especially in the case of GCTs and SCSTs, may present with acute abdominal tenderness (Ghosh et al. 2016). The initial manifestation of hormone-producing ovarian tumours can include the onset of endocrine abnormalities, depending on the patient’s age (Shanbhogue et al. 2010). Isosexual precocious puberty, including breast enlargement, abnormal vaginal bleeding, development of pubic and axillary hair, and menstrual irregularity demonstrated by hypermenorrhea or amenorrhoea, can affect young patients before and after the appearance of menarche, respectively (Motta et al. 2017). Besides, signs of virilization or masculinisation, including acne, deepening of the voice, hirsutism, and a clitoral enlargement, may be observed in both prepubertal girls and female adolescents.
A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene
Published in Gynecological Endocrinology, 2020
Edip Unal, Ruken Yıldırım, Funda Feryal Taş, Suat Tekin, Serdar Ceylaner, Yusuf Kenan Haspolat
Cytochrome P450 17α-hydroxylase deficiency (P450c17) is rarely seen and constitutes approximately 1% of all CAH cases. P450c17 enzyme is encoded by CYP17A1 gene, which is located on chromosome 10q24.3, and plays an important role in steroid hormone biosynthesis. P450c17 catalyzes 2 different reactions. The first reaction occurs with 17α-hydroxylase activity which provides the transformation of pregnenolone and progesterone to 17α-hydroxypregnenolone and 17α-hydroxyprogesterone respectively. The second reaction occurs with 17,20-lyase activity, which transforms the created 17α-hydroxysteroids to dihydroepiandrosterone and androstenedione [5,6]. P450c17 enzyme is expressed both in the adrenal cortex and in the gonads [7]. Therefore, in cases of 17α-hydroxylase deficiency, both adrenal and gonadal steroid synthesis is impaired, and clinically primary amenorrhea and sexual infantilism are seen in girls (46,XX) and disorders of sex development are seen in boys (46,XY). Excessive ACTH production occurs to compensate for reduced cortisol synthesis. Increased ACTH leads to an excessive amount of 11-deoxycorticosterone (DOC) production, which in turn results in hypertension and hypokalemia. The presentations of both cases to our attention were similar. Both cases had female phenotype and hypertension, hypokalemia, delayed puberty and hypergonadotropic hypogonadism were present. However, in the karyotype analysis, ıt was found that the first case had a 46,XY karyotype and the second case had 46,XX. The lack of virilization in the first case is associated with impaired gonadal and adrenal androgen production.
The importance and implications of preconception genetic testing for accurate fetal risk estimation in 21-hydroxylase congenital adrenal hyperplasia (CAH)
Published in Gynecological Endocrinology, 2019
Suresh Rama Chandran, Lih Ming Loh
The genetic test results vastly altered the risk of CAH to the offspring of this couple (Figure 1). Firstly it increased the risk of CAH in the offspring from an estimated 1/120 to 1/2 (0.008% to 50%), a dramatic change. Secondly, it revealed the previously unknown, 1/4 (25%) risk of SW-CAH in the offspring. The patient was well aware of the symptoms associated with SV-CAH, however, the possibility of SW-CAH in her offspring was difficult for her to comprehend. Thirdly, the risk of having a female offspring with CAH, rose from 1/240 to 1/4 (0.004% to 25%). An affected female offspring has the risk of genital virilization. The birth of a female offspring with genital virilization can bring physical and psychological trauma to both the parents and the offspring. This also brings up the consideration for prenatal dexamethasone therapy and prenatal diagnosis of the embryo during in vitro fertilization (IVF) to reduce such a risk.