Endocrine Disorders, Contraception, and Hormone Therapy during Pregnancy
“Bert” Bertis Britt Little in 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.
Pubertal abnormalitiesPrecocious and delayed
Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo in Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Adrenarche refers to the process of androgenic maturation, beginning with increasing production of the adrenal hormones, androstenedione and DHEA-S, and culminating with pubarche, the appearance of axillary and pubic hair, as well as increased oiliness of the scalp and skin, apocrine body odor, and potential for acne. Pubarche usually but not always occurs after thelarche. In contrast to adrenarche and pubarche, virilization describes abnormal androgen production leading to clitoromegaly, muscle enlargement, and hirsutism. Normal female puberty does not include hirsutism, clitoromegaly, deep voice, and/or muscular hypertrophy. A cause for virilization should always be sought, considering exogenous androgen exposure, congenital adrenal hyperplasia, mixed gonadal dysgenesis, other genetic disorders previously unrecognized in the child's life (such as 5-α reductase deficiency) or ovarian, adrenal, or rare hepatic tumors. Virilization can decrease reproductive potential.
The adrenal glands and other abdominal endocrine disorders
Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie in Bailey & Love's Short Practice of Surgery, 2018
Virilisation and adrenal insufficiency in children are pathognomonic of congenital adrenal hyperplasia (CAH). This is an autosomal recessive disorder caused by a variety of enzymatic defects in the synthetic pathway of cortisol and other steroids from cholesterol. The most frequent defect (95%) is the 21-hydroxylase deficiency, which has an incidence of 1 in 5000 live births. Excessive ACTH secretion is caused by the loss of cortisol and this leads to an increase in androgenic cortisol precursors and to CAH. CAH may present in girls at birth with ambiguous genitalia or as late-onset disease at puberty. Hypertension and short stature, caused by the premature epiphyseal plate closure, are common signs. Affected patients are treated by replacement of cortisol and with fludrocortisone. Large hyperplastic adrenals may need to be removed if symptomatic.
Sex dimorphism of weight and length at birth: evidence based on disorders of sex development
Published in Annals of Human Biology, 2022
D.S.R. Amais, T.E.R. da Silva, B.A. Barros, J.G.R. de Andrade, S.H.V. de Lemos-Marini, M.P. de Mello, A.P. Marques-de-Faria, T.N. Mazzola, M.S. Guaragna, H. Fabbri-Scallet, T.A.P. Vieira, N.L. Viguetti-Campos, A.M. Morcillo, O. Hiort, A.T. Maciel-Guerra, G. Guerra-Junior
Children with CAH due to 21-hydroxylase deficiency have an increased production of adrenal androgens, which in the prenatal period causes virilization of the female external genitalia. Data in the literature demonstrate that prenatal hyperandrogenism also affects the size at birth in newborns with CAH (Qazi and Thompson 1971; Dörr et al. 2019). Over the years, several studies have been published comparing anthropometric data of newborns with CAH and healthy ones. A study in Finland reported that males and females with CAH were longer at birth than healthy children of the same ethnicity (Jaaskelainen and Voutilainen 1997). This fact was also confirmed in the study by Balsamo et al. in Italy (Balsamo et al. 2006). In contrast, data from the United Kingdom and Sweden did not show differences between the standard deviation of birthweight in females and males with CAH in relation to national references, and the same occurred in the study by Chalmers et al. (2011). Thus, it is clear that data published so far in the literature are scarce and conflicting.
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.
The XY Female: Exploring Care for Adolescent Girls with Complete Androgen Insensitivity Syndrome
Published in Comprehensive Child and Adolescent Nursing, 2020
Kate Davies
The 46, XY classification is complex, and usually encompasses diagnoses and presentations of ambiguous or female external genitalia, and either the absence or presence of Mullerian structures (Mendonca, Costa, Belgorosky, Rivarola, & Domenice, 2010). Mullerian structures involve the fallopian tubes, uterus, the cervix, and part of the vagina, whereas the Wolffian structures will develop into the epididymis, the two vas deferens, and the seminal vesicles in the male reproductive system. However, abnormalities of karyotype, formation of gonads, androgen synthesis and androgen action are the principle causes that result in under-virilization—that is, under masculinization of ‘biological’ XY individuals (Massanyi, Dicarlo, Migeon, & Gearhart, 2013). Sometimes, the Wolffian ducts may not form properly in the early stages of embryological development, resulting in a non-endocrine-related picture, and also gonadal dysfunction and hypogonadism can be the result of insufficient testosterone. Disorders of androgen synthesis, such as 5-α-reductase deficiency are found in individuals with female or ambiguous genitalia at birth who later virilize at puberty, which can sometimes lead to a personal decision to change gender (Michala & Creighton, 2010). However, Complete Androgen Insensitivity Syndrome results from androgen receptor dysfunction (Mongan, Tadokoro-Cuccaro, Bunch, & Hughes, 2015), and is the most common condition leading to the presentation of an XY female, with an estimated incidence of 1 in every 40,000–60,000 births (Michala & Creighton, 2010).
Related Knowledge Centers
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- Puberty
- Scrotum
- Perineum
- Androgen
- Sex Differences In Humans
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