RESUMO
Microphallus/Micropenis is a rare condition with significant physical and psychological implications for affected individuals. This article comprehensively reviews micropenis, its etiology, epidemiology, and various treatment options. We conducted a thorough literature review to collect relevant information on micropenis and microphallus, as well as related disorders. Our primary databases were PubMed, Medline, and Google Scholar. We searched for articles published in English between 2000 and 2023. Our analysis included 67 review articles, 56 research studies, 11 case reports, one guideline, and one editorial. Our search terms included "microphallus", "micropenis", "congenital hypogonadotropic hypogonadism", "androgen insensitivity syndrome", "pediatric management of micropenis", "testosterone therapy", and "psychosocial implications of micropenis". We focused on diagnosing micropenis and related conditions, including hormonal assessments, medical and surgical treatment options, psychosocial and psychological well-being, sexual development of adolescents, and sociocultural influences on men's perceptions of penile size. Additionally, we explored parenting and family dynamics in cases of micropenis and disorders of sex development, implications of hormonal treatment in neonates, and studies related to penile augmentation procedures and their effectiveness. The article highlights the importance of early diagnosis and intervention in addressing the physical and psychological well-being of individuals with micropenis. Surgical procedures, such as penile lengthening and girth enhancement, and non-surgical approaches like hormonal therapy are explored. The significance of psychological support, education, and lifestyle modifications is emphasized. Early management and comprehensive care are crucial for individuals with micropenis, from infancy to adolescence and beyond. A multidisciplinary approach involving urologists, endocrinologists, and mental health professionals is recommended. Regular assessment of treatment effectiveness and the need for updated guidelines are essential to provide the best possible care. Healthcare professionals should prioritize early diagnosis, and neonatologists should measure stretched penile length in neonates. A collaborative effort is needed among professionals, parents, and affected individuals to create a supportive environment that recognizes worth beyond physical differences. Continuous research and evidence-based updates are crucial for improving care standards.
RESUMO
MAMLD1 (X chromosome) is one of the recognized genes related to different sex development. It is expressed in testis and ovaries and seems to be involved in fetal sex development and in adult reproductive function, including testosterone biosynthesis. However, its exact role remains unclear. Over 40 genetic variants have been described, mainly in male individuals and mostly associated with hypospadias. Although MAMLD1 has been shown to regulate the expression of the steroidogenic pathway, patients with MAMLD1 variants mostly show normal gonadal function and normal testosterone levels. Here we describe a patient (46,XY) with hypospadias and microphallus, with low testosterone and dihydrotestosterone (DHT) levels, and with inappropriately low values of luteinizing hormone (LH) during minipuberty. This hormonal pattern was suggestive of partial hypogonadotropic hypogonadism. A stimulation test with hCG (4 months) showed no significant increase in both testosterone and dihydrotestosterone concentrations. At 5 months of age, he was treated with intramuscular testosterone, and the penis length increased to 3.5 cm. The treatment was stopped at 6 months of age. Our gonadal function massive-sequencing panel detected a previously unreported nonsense variant in the MAMLD1 gene (c.1738C>T:p.Gln580Ter), which was classified as pathogenic. This MAMLD1 variant, predicting a truncated protein, could explain his genital phenotype. His hormonal profile (low testosterone, dihydrotestosterone, and LH concentrations) together with no significant increase of testosterone and DHT plasma concentrations (hCG test) highlight the potential role of this gene in the biosynthesis of testosterone during the fetal stage and minipuberty of the infant. Besides this, the LH values may suggest an involvement of MAMLD1 in the LH axis or a possible oligogenesis. It is the first time that a decrease in DHT has been described in a patient with an abnormal MAMLD1.
Assuntos
Hipogonadismo , Hipospadia , Proteínas de Ligação a DNA/genética , Di-Hidrotestosterona , Humanos , Hipogonadismo/genética , Hipospadia/genética , Hormônio Luteinizante , Masculino , Proteínas Nucleares/genética , Testículo/metabolismo , Testosterona , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismoRESUMO
Host organism offers an environment for a parasite, and this environment is heterogenous within the host, variable among individual as well as between the hosts, and changing during the host's lifetime. This heterogeneity may act as a prerequisite for parasite species divergence. Intraspecific variability related to a certain type of heterogeneity may indicate an initial stage of speciation, and thus poses an evolutionary importance. Here we analyzed genetic and morphologic variation of trematode metacercariae of Microphallus piriformes (Trematoda, Microphallidae). Genetic variability of trematodes was assessed from sequences of cytochrome c oxidase subunit 1 (COI) and internal transcribed spacer region (ITS-1). Morphological variation of metacercarial body shape was for the first time analyzed using geometric morphometrics. Parasites from the White Sea and the Barents Sea coasts demonstrated partial genetic divergence (according to COI sequence analysis) and had significantly different body shape. Neither genetic nor morphological variation of metacercariae was related to intermediate host species. We discuss possible causes of the observed genetic divergence of parasite populations in different geographic regions.
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The adult and metacercaria life stages of a new species of the microphallid genus Atriophallophorus Deblock & Rosé, 1964 are described from specimens collected at Lake Alexandrina (South Island, New Zealand). In addition to molecular analyses of ribosomal and mitochondrial genes, metacercariae of Atriophallophorus winterbourni n. sp. from the snail host Potamopyrgus antipodarum (Gray) were grown in vitro to characterize internal and external morphology of adults using light and scanning electron microscopy and histological techniques. Atriophallophorus winterbourni n. sp. is readily distinguishable from Atriophallophorus coxiellae Smith, 1973 by having a different structure of the prostatic chamber, sub-circular and dorsal to genital atrium, rather than cylindrical, fibrous, elongate and placed between the seminal vesicle and the genital atrium. The new species is most similar to Atriophallophorus minutus (Price, 1934) with regards to the prostatic chamber and the morphometric data, but possesses elongate-oval testes and subtriangular ovary rather than oval and transversely oval in A. minutus. Phylogenetic analyses including sequence data for A. winterbourni n. sp. suggested a congeneric relationship of the new species to a hitherto undescribed metacercariae reported from Australia, both forming a strongly supported clade closely related to Microphallus and Levinseniella. In addition, we provide an amended diagnosis of Atriophallophorus to accommodate the new species and confirm the sinistral interruption of the outer rim of the ventral sucker caused by the protrusion of the dextral parietal atrial scale at the base of the phallus.
Assuntos
Filogenia , Caramujos/parasitologia , Trematódeos/anatomia & histologia , Trematódeos/classificação , Animais , Austrália , DNA Ribossômico/genética , Feminino , Genes Mitocondriais , Genitália/anatomia & histologia , Lagos/parasitologia , Masculino , Metacercárias/anatomia & histologia , Metacercárias/classificação , Nova ZelândiaRESUMO
Penis anatomy is used to discriminate species of gastropods belonging to the family Cochliopidae; however, this characteristic may be affected by the presence of parasites. To evaluate the possible effect of parasites on penis length and number of papillae in Heleobia parchappii, 195 males were collected from the Nahuel Rucá Lagoon, Argentina. Male snails were only infected by trematode digeneans (total prevalence 45.13%). Three out of 9 species of digeneans registered showed prevalence values higher than 10%: Microphallus szidati, M. simillimus, and Notocotylidae sp. 1. The penis length of non-parasitized males and those parasitized by M. szidati and M. similimus increased with increased snail length; however, this increase was lower in infected snails. In the case of snails infected with Notocotylidae sp. 1, no relationship between shell length and penis length was apparent. Differences in the life cycles of these 3 digeneans could explain the null or lower penis growth rate in relation to host body growth. In contrast, no change was observed in the number of penial papillae of H. parchappii when these snails were infected by larval digeneans compared to those that were not infected. This indicates that penial papillae may be a more stable characteristic than penis length to discriminate between species within the Cochliopidae. The study of penial papillae should be central in the taxonomy and identification of new species within the Cochliopidae, as well as in previously described species.
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Gastrópodes/parasitologia , Pênis/patologia , Trematódeos/fisiologia , Animais , Interações Hospedeiro-Parasita , MasculinoRESUMO
Hypospadias is a congenital anomaly of the male urethra that causes significant morbidity in the pediatric male population. The mainstay of treatment is hypospadias repair surgery. However, given the common co-occurrence of microphallus in these patients, surgery remains difficult without adequate tissue for proper reconstruction of the urethra. The use of preoperative testosterone therapy, parenterally or topically, has been a topic of study for several years in urologic literature. This literature review aims to summarize the different studies that have been conducted to address whether preoperative testosterone therapy is beneficial, inconsequential, or detrimental to the surgical and cosmetic outcomes of hypospadias repair as well as to address the differences in routes of administration.
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The prevalence of infection varies dramatically on a fine spatial scale. Many evolutionary hypotheses are founded on the assumption that this variation is due to host genetics, such that sites with a high frequency of alleles conferring susceptibility are associated with higher infection prevalence. This assumption is largely untested and may be compromised at finer spatial scales where gene flow between sites is high. We put this assumption to the test in a natural snail-trematode interaction in which host susceptibility is known to have a strong genetic basis. A decade of field sampling revealed substantial spatial variation in infection prevalence between 13 sites around a small lake. Laboratory assays replicated over 3 years demonstrate striking variation in host susceptibility among sites in spite of high levels of gene flow between sites. We find that mean susceptibility can explain more than one-third of the observed variation in mean infection prevalence among sites. We estimate that variation in susceptibility and exposure together can explain the majority of variation in prevalence. Overall, our findings in this natural host-parasite system argue that spatial variation in infection prevalence covaries strongly with variation in the distribution of genetically based susceptibility, even at a fine spatial scale.
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Interações Hospedeiro-Parasita , Caramujos/parasitologia , Trematódeos/patogenicidade , Animais , Evolução Biológica , PrevalênciaRESUMO
During October and November of 2011 and 2012, 229 hermit crabs, Pagurus bernhardus, were randomly collected from the intertidal shore at three locations along the southwest coast of Ireland. This is the first survey to assess the health status of this crustacean in Ireland. Carapace length and the sex of each crab were recorded. Crabs were screened for parasites by histology and the intensity and prevalence of infection was determined. Crabs of varying carapace length were screened. The only parasite observed in the crabs was Microphallus sp., the first record of this digenetic trematode in P. bernhardus in Europe.
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Anomuros/parasitologia , Animais , Irlanda , Prevalência , TrematódeosRESUMO
BACKGROUND: It is inappropriate to use universal cut-off points to interpret stretched penile length (SPL) measurements in newborns with variable body dimensions. AIM: To assess neonatal SPL on the basis of gestational maturity and anthropometric parameters at birth. METHODS: A cross-sectional observational study of SPL was conducted on stable newborns at a referral teaching hospital in north India between January and June 2012. Gestational maturity, SPL and anthropometric parameters (weight, length, head circumference and foot length) were recorded within 24 hours of birth. Variation of SPL in relation to gestational age and anthropometric parameters were evaluated using multiple linear regression models. The equation using lower confidence limits of 95% confidence intervals for the correlation coefficients provides cut-off points to define a small penis. RESULTS: Data from 1249 newborns demonstrated that penile growth follows the pattern of increase in body dimensions in newborns. SPL can be predicted best in relation to body and foot length taken together. CONCLUSIONS: SPL should be interpreted in relation to anthropometric parameters in newborns, particularly body and foot length.
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Antropometria , Desenvolvimento Fetal , Pênis/anatomia & histologia , Tamanho Corporal , Estudos Transversais , Pé/anatomia & histologia , Hospitais de Ensino , Humanos , Índia , Recém-Nascido , MasculinoRESUMO
OBJECTIVES: To evaluate the effect of parenteral testosterone on penile length, preputial skin and side effects in patients with hypospadias. MATERIALS AND METHODS: 23 patients with hypospadias were included in this study. An oily solution, each ml of which contained testosterone propionate 25 mg, and testosterone enanthate 110 mg, equivalent to 100 mg of testosterone was given deep intramuscularly 4, 3 and 2 weeks before reconstructive surgery at the dose of 2 mg/kg body weight. Increase in penile length, transverse preputial diameter, and diameter at the base of penis were noted. Basal testosterone levels were obtained before the institution of therapy and on the day of operation. In addition, side effect such as development of pubic hair and delay in bone age was noted. RESULTS: Following parenteral testosterone administration, the mean increase in penile length, transverse preputial diameter and diameter at the base of penis was 1.35±0.40 cm (P<0.001), 1.40±0.47 cm (P<0.001), and 0.72±0.47 cm (P<0.001), respectively. Serum testosterone level after injection was well within normal range for that age. Minimal side effects were noted in form of development of fine pubic hair. CONCLUSION: We conclude that parenteral testosterone can be safely used to improve the surgical outcome of hypospadias repair.
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To figure out the geographical distribution of Gynaecotyla squatarolae and Microphallus koreana metacercariae in Korea, shore crabs of southwestern coastal areas were examined. Eight coastal areas in Inchon-si (A), Gyeonggi-do (B), Chungcheongnam-do (C, D, and E), Jeollabuk-do (F), and Jeollanam-do (G and H) were selected, and 2 kinds of crabs, Macrophthalmus dilatatus and/or Macrophthalmus japonicus, were caught. After transportation to the laboratory, 15 crabs per each group were grouped and ground in a mortar and pestle, and examined for microphallid metacercariae. In M. dilatatus, G. squatarolae metacercariae were recovered from 3 (C, E, and H) out of 6 regions, but M. koreana metacercariae were not recovered. In the case of M. japonicus, G. squatarolae metacercariae were recovered from 6 (B, D, E, F, G, and H) of 7 areas surveyed, and M. koreana matacercariae were detected from 5 regions (A, B, D, F, and H). These results indicate that the life cycle of G. squatarolae is maintained in the western coastal areas using M. dilatatus and M. japonicus as intermediate hosts, while that of M. koreana is maintained only using M. japonicus.
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Braquiúros/parasitologia , Trematódeos/isolamento & purificação , Animais , Estudos Transversais , Geografia , República da CoreiaRESUMO
During 1997-1999, a total of 94 crabs, Uca rapax were collected from La Sabana, La Ceiba and El Paujil, Sucre State, Venezuela. Of these 36 were infected with metacercariae. Two parasites were located in the abdominal muscles and one under the tissue of carapace and gonad. These metacercariae grew to adults in the following genera: Levinseniella, Microphallus and Maritrema, in the period of 2-5 days after feeding experimentally to the rat Rattus norvegicus, mice Mus musculus and duck Cairinia moschata. Specimens of the genus Microphallus were described herein as a new species M. sabanensis. The life cycle of M. sabanensis sp.nov. were studied experimentally using rat, mice and duck. All developmental stages and the adult are described. In addition, M. sabanensis was collected from wild birds Anas discors, Pluvialis squatarola, Butorides striatus, Egretta caerulea and Nycticorax violaceus from the same localities.
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Animais , Camundongos , Ratos , Braquiúros/parasitologia , Trematódeos/classificação , Estágios do Ciclo de Vida , Interações Hospedeiro-Parasita , Trematódeos/fisiologia , Trematódeos/isolamento & purificação , VenezuelaRESUMO
We have investigated the influence of Microphallus papillorobustus (Trematoda) on the reproductive biology and mating patterns of its intermediate host Gammarus insensibilis (Amphipoda). Infected Gammarus species show altered behaviour which renders them more susceptible to predation by Charadriiform birds, the parasite's definitive hosts. In a natural population of G. insensibilis, mean parasite intensity was higher for unpaired individuals than for paired individuals. Fecundity was reduced in infected amphipods. Size-assortative pairing was significant, although infected males were found with smaller females compared to uninfected males of the same size. There was also a positive assortative pairing by parasitic prevalence. Vertical segregation between infected and uninfected individuals, male-male competition for access to uninfected females, and female choice may explain assortative mating for prevalence. This study provides the first empirical evidence that parasites can have a direct effect on patterns of mating in gammarids.