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Effects on Human Males of In Utero Exposure to Exogenous Sex Hormones
Published in Takao Mori, Hiroshi Nagasawa, Toxicity of Hormones in Perinatal Life, 2020
The Beth Israel study of Whitehead and Leiter6 described a “hypoplastic penis” in 2% of 48 DES-exposed patients. A Stanford study7 of relatively small numbers found an 8% incidence of micropenis in both the DES-exposed and control groups. Definitions of microphallus or hypoplastic penis were not given in these later papers. Further discussion of microphallus as a component of ambiguous genitalia will be given under the heading of male pseudohermaphroditism.
Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
GHD may rarely present with neonatal hypoglycaemia. Later presentation is usually with short stature (Fig. 13.2). The child classically looks chubby with a round immature face (Fig. 13.3). Micropenis may be a feature (Fig. 13.4). The birth weight is usually normal. However, the height velocity is slow from around the end of the first year of life. Breech delivery with obstetric trauma may be associated.
Sex Chromosome Anomalies
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
L. Hamerton John, A. Evans Jane
48,XXXY males (Fig. 5c) were first reported in 1959 by Barr et al. (133) and, until 1995, about 50 cases had been described (124). Most were ascertained in the 1960s and 1970s through studies of patients in hospitals for the mentally retarded or mentally ill, and thus there may be significant bias in ascertainment. Few cases have been reported in recent years. Patients are considered to be a variant of Klinefelter syndrome with generally more pronounced features. Stature is normal to tall; hypertelorism and epicanthic folds are common. Skeletal anomalies include clinodactyly, abnormalities of the elbows, and radio-ulnar synostosis. Subjects are infertile with hypogonadotrophic hypogonadism and testicular histology similar to 47,XXY. About a quarter of the patients have a micropenis. Patients are usually mildly to moderately retarded with IQs in the 20–76 range, most in the 40–60 range (124). Behavior is often immature for chronological age, but consistent with the level of intelligence. Patients are described as passive, placid, pleasant, and cooperative. Aggressive behaviour is rarely observed (124).
Considerations when treating male pubertal delay pharmacologically
Published in Expert Opinion on Pharmacotherapy, 2022
Here there is a genetic cause or an acquired anatomic lesion directly involving the hypothalamic-pituitary axis. As a whole, they are responsible for approximately 7–9% male cases with pubertal delay [23,24]. Cancer or cancer treatment directly affecting the hypothalamic-pituitary area is the underlying cause of pubertal delay in less than 2% of males [24]. Congenital multiple pituitary hormone deficiencies including a gonadotrophin deficit and other forms of central hypogonadism occurring as part of a broader syndrome (e.g. Bardet-Biedl, Noonan, Alagille, etc.) represent the cause of delayed puberty in approximately 4% of the cases [24]. Isolated central hypogonadism with anosmia (Kallmann syndrome) or without anosmia is responsible for approximately 2% of the cases [23,24]. A history of micropenis, micro-orchidism and cryptorchidism may guide the diagnosis (Box 1). Genetic testing using NGS technologies have helped to increase the diagnostic rate to almost half of the cases [31].
Molecular study and genotype–phenotype in Chinese female patients with 46, XY disorders of sex development
Published in Gynecological Endocrinology, 2021
Junke Xia, Jing Wu, Chen Chen, Zhenhua Zhao, Yanchuan Xie, Zhouxian Bai, Xiangdong Kong
P.5 complained of primary amenorrhea. Testicles were detected around her right iliac fossa by US. The serum testosterone was 11.37 ng/mL. Her mother’s sister suffered from the same symptoms (Supplement Figure 1). P.6 complained of primary amenorrhea. Normal female genitals were observed. US showed no uterus, and two ovarian-like masses around her bilateral iliac vessels. Needle biopsy was performed, and pathology results confirmed that the two masses were actually testicles. P.7 visited the hospital because of genital abnormality. Her clitoridauxe resembled a micropenis, behind which the urinary meatus was observed. The vaginal orifice could not be observed. Labia majora and labia minora were normal. P.8 complained of genital abnormality. Her clitoridauxe resembled a micropenis. Both labia majora and labia minora were over-hypertrophic and resembled a scrotum, which appeared to fuse together with the micropenis. The urinary meatus was at the bottom of the micropenis, and the vaginal orifice could not be observed. P.9 was 1-year old and was admitted to the hospital because of genital abnormality. She had been diagnosed with hernia from an unknown origin. Her clitoridauxe resembled a micropenis, behind which the urinary meatus was observed. The vaginal orifice could not be observed. Labia majora and labia minora were normal.
Current updates and future perspectives in the evaluation of azoospermia: A systematic review
Published in Arab Journal of Urology, 2021
Nahid Punjani, Caroline Kang, Dolores J. Lamb, Peter N. Schlegel
CRKL encodes the SRC homology 2 (SH2) and SH3 homology adaptor protein that plays a role in mediating tyrosine kinase signalling pathways [54]. This well-known gene causes many of the major anomalies present in 22q11.2 deletion syndrome (DiGeorge syndrome) and was more recently defined as the gene-dosage defect that causes the genitourinary abnormalities found in both DiGeorge syndrome and seemingly non-syndromic patients with upper and lower tract genitourinary anomalies. Associated birth defects included micropenis and cryptorchidism, but the histopathology identified in the cryptorchid mouse model was atypical spermatogenic failure unlike the spermatogenic arrest present in individuals (or mice) with cryptorchid testis [54]. This protein therefore has a unique role in testicular descent, spermatogenesis, and like MAZ described above is associated with numerous other systemic conditions such as cardiac, developmental, gastrointestinal, ocular, auditory, and craniofacial abnormalities [3].