Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.

CONTEXT 3β-hydroxysteroid dehydrogenase deficiency (3βHSD) is a rare disorder of sexual development and steroidogenesis. There are two isozymes of 3βHSD, HSD3B1 and HSD3B2. Human mutations are known for the HSD3B2 gene which is expressed in the gonads and the adrenals. Little is known about testis histology, fertility and malignancy risk. OBJECTIVE To describe the molecular genetics, the steroid biochemistry, the (immuno-)histochemistry and the clinical implications of a loss-of-function HSD3B2 mutation. METHODS Biochemical, genetic and immunohistochemical investigations on human biomaterials. RESULTS A 46,XY boy presented at birth with severe undervirilization of the external genitalia. Steroid profiling showed low steroid production for mineralocorticoids, glucocorticoids and sex steroids with typical precursor metabolites for HSD3B2 deficiency. The genetic analysis of the HSD3B2 gene revealed a homozygous c.687del27 deletion. At pubertal age, he showed some virilization of the external genitalia and some sex steroid metabolites appeared likely through conversion of precursors secreted by the testis and converted by unaffected HSD3B1 in peripheral tissues. However, he also developed enlarged breasts through production of estrogens in the periphery. Testis histology in late puberty revealed primarily a Sertoli-cell-only pattern and only few tubules with arrested spermatogenesis, presence of few Leydig cells in stroma, but no neoplastic changes. CONCLUSIONS The testis with HSD3B2 deficiency due to the c.687del27 deletion does not express the defective protein. This patient is unlikely to be fertile and his risk for gonadal malignancy is low. Further studies are needed to obtain firm knowledge on malignancy risk for gonads harboring defects of androgen biosynthesis.

Fort Richardson Ordnance Detonations and the Harbor Porpoise: A Case Study in Marine Mammal Bioacoustics

Hearing is extremely important for cetaceans because it is their “principal sense” (Weilgart, 2007) thus the harbor porpoise and other marine animals are highly dependent on sound for survival. This is why we should care about the impact of noise on animals like the harbor porpoise. Since sound travels so well in water, an explosion, sonar, boat noise, etc. can affect a very large area and thus many different species of marine mammals. Although military actions such as low frequency sonar have made recent news, noise has been affecting cetaceans, especially beaked whales, since at least 1991 (Weilgart, 2007). This study is an investigation of the possible impacts of artillery detonated on land on harbor porpoise hearing and covers some of the history of Fort Richardson, the legal and historical aspects and history of this type of concern, the science and physics of sound, marine mammal hearing and general biology of the harbor porpoise. Data were collected at the Fort Richardson Army base during June of 2007 by researchers from the University of Connecticut and the University of Rhode Island and will be used to determine the possible impacts that these detonations could have on the harbor porpoise.

Immobilisation dose rates and photogrammetry based mass calculations for southern elephant seals during expedition JUB2010

Immobilization and anaesthesia of adult male southern elephant seals (Mirounga leonina) is potentially risky for animals and scientists. A tiletamine/zolazepam injection is considered the most appropriate drug combination for field application in this species. Since appropriate dosages are difficult to assess due to uncertainties in weight estimation, we used photogrammetry-derived weight estimates to ensure precise post hoc calculations of dosages. We report on 15 intramuscular tiletamine/zolazepam immobilizations of post-moult males of the upper weight class at King George Island/Isla 25 de Mayo, in April 2010. Initial injections were made using blowpipe syringes. Mean tiletamine/zolazepam combined dosages of 0.71 mg/kg (SD ± 0.16) ranged between 0.46 and 1.01 mg/kg. In four cases, ketamine was added in dosages between 0.96 and 2.61 mg/kg. Mean induction period was 23 min (± 15), and the mean duration of the procedures from first injection to release of the animals required 96 min (± 51). Four seals exhibited periods of apnoea, and one case of an extended, repetitive, and potentially critical apnoea (> 25 and 8 min) required intervention in order to successfully re-initiate spontaneous respiration. All procedures resulted in proper immobilizations allowing for the deployment of the satellite tags on the seals' heads. The fact that even substantial deviations between the initial weight estimates and the photogrammetry-derived weight estimates had no apparent effect on the course of the immobilization underlines the drugs' wide safety margin in this species.

Stomach content of ringed seals (Pusa hispida) obtained from the Northeast Greenland area

The diet of ringed seals (Pusa hispida) from coastal and offshore areas of Northeast Greenland was determined by identifying, to the lowest taxonomic limit possible, all hard-part contents from the gastrointestinal tract of 51 seals sampled (2002-2004) in spring (April to June, N = 35) and autumn (September to October, N = 16). The autumn diet was characterized by high numbers of Parathemisto libellula, and the spring diet was comprised primarily of polar cod (Boreogadus saida), with few invertebrates consumed. The coastal seal diet samples had a diverse fish prey composition (during both the spring and autumn), whereas the open water seals had eaten mostly crustaceans with P. libellula being most abundant. The sample sizes from the various locations and seasons were not large enough to explore age-class effects on diet in addition. Similar to earlier studies, this study suggests that the ringed seal is a generalist that exploits prey based on availability, with a few key species dominating the diet in an area at least on a seasonal basis.

(Table 2) Fatty acid profile of blubber from harp seals and hooded seals from the Greenland Sea and Denmark Strait

Sub-Arctic marine ecosystems are some of the most productive ecosystems in the world's oceans. The capacity of herbivorous zooplankton, such as Calanus, to biosynthesize and store large amounts of lipids during the short and intense spring bloom is a fundamental adaptation which facilitates the large production in these ecosystems. These energy-rich lipids are rapidly transferred through the food chain to Arctic seals. The fatty acids and stable isotopes from harp seal (Phoca groenlandica) and hooded seal (Cystophora cristata) off East Greenland as well as their potential prey, were analysed. The results were used to describe the lipid dynamics and energy transfer in parts of the East Greenland ecosystem. Even if the two seal species showed considerable overlap in diet and occurred at relatively similar trophic levels, the fatty acid profiles indicated that the bases of the food chains of harp and hooded seals were different. The fatty acids of harp seals originate from diatom-based food chain, whereas the fatty acids of hooded seals originate from dinoflagellate and the prymnesiophyte Phaeocystis pouchetii-based food chain. Stable isotope analyses showed that both species are true carnivores on the top of their food chains, with hooded seal being slightly higher on the food chain than harp seal.

(Table 1) Stable carbon and nitrogen isotopic ratios of potential prey species of bearded seals (Erignathus barbatus), Svalbard

Changing patterns of sea-ice distribution and extent have measurable effects on polar marine systems. Beyond the obvious impacts of key-habitat loss, it is unclear how such changes will influence ice-associated marine mammals in part because of the logistical difficulties of studying foraging behaviour or other aspects of the ecology of large, mobile animals at sea during the polar winter. This study investigated the diet of pregnant bearded seals (Erignathus barbatus) during three spring breeding periods (2005, 2006 and 2007) with markedly contrasting ice conditions in Svalbard using stable isotopes (d13C and d15N) measured in whiskers collected from their newborn pups. The d15N values in the whiskers of individual seals ranged from 11.95 to 17.45 per mil, spanning almost 2 full trophic levels. Some seals were clearly dietary specialists, despite the species being characterised overall as a generalist predator. This may buffer bearded seal populations from the changes in prey distributions lower in the marine food web which seems to accompany continued changes in temperature and ice cover. Comparisons with isotopic signatures of known prey, suggested that benthic gastropods and decapods were the most common prey. Bayesian isotopic mixing models indicated that diet varied considerably among years. In the year with most fast-ice (2005), the seals had the greatest proportion of pelagic fish and lowest benthic invertebrate content, and during the year with the least ice (2006), the seals ate more benthic invertebrates and less pelagic fish. This suggests that the seals fed further offshore in years with greater ice cover, but moved in to the fjords when ice-cover was minimal, giving them access to different types of prey. Long-term trends of sea ice decline, earlier ice melt, and increased water temperatures in the Arctic are likely to have ecosystem-wide effects, including impacts on the forage bases of pagophilic seals.

Immobilisation data of juvenile and adult male and female Weddell seals at Drescher Inlet from expeditions DRE1990 and DRE1992

Fourten Weddell seals (Leptonychotes weddellii) and two crabeater seals (Lobodon carcinophaga) were immobilised at Drescher Inlet (Riiser Larsen Ice Shelf), eastern Weddell Sea coast, between January and February 1990 using a combination of ketamine, xylazine, and diazepam. Eleven Weddell seals were drugged once, and two and one were drugged two and three times each, coming to a total of 18 immobilisation procedures. Another 16 seals were immobilised between January and February 1992. Ten seals were drugged once, and three and two were drugged two and three times each, coming to a total of 25 immobilisation procedures. Narcoses were terminated with yohimbine. Data as given by doi:10.1594/PANGAEA.438920 were selected for publication. Data sets doi:10.1594/PANGAEA.438921 and doi:10.1594/PANGAEA.438926 followed the same methods and dose regimes.

At surface behaviour of adult male southern elephant seals from King George Island from expedition JUB2000

Adult male southern elephant seals instrumented in 2000 on King George Island (n = 13), travelled both to the north (doi:10.1594/PANGAEA.231580, doi:10.1594/PANGAEA.231585) and to the east (doi:10.1594/PANGAEA.231571, doi:10.1594/PANGAEA.231579, doi:10.1594/PANGAEA.261708, doi:10.1594/PANGAEA.261709, doi:10.1594/PANGAEA.261710, doi:10.1594/PANGAEA.261711) of the Antarctic Peninsula. Five males (doi:10.1594/PANGAEA.231571, doi:10.1594/PANGAEA.231579, doi:10.1594/PANGAEA.231580, doi:10.1594/PANGAEA.261710, doi:10.1594/PANGAEA.231585) remained within 500 km of the island and focusing movements in the Bransfield Strait and around the Antarctic Peninsula. Sea-surface temperatures encountered by these animals showed little variation and they seemed to move about irrespective of sea ice cover, but frequented areas of shallow bathymetry. Three males (doi:10.1594/PANGAEA.261708, doi:10.1594/PANGAEA.261709, doi:10.1594/PANGAEA.261711) moved as far as 75°S to the east of the peninsula, into the Weddell Sea, with maximum distances of more than 1500 km from King George Island. They travelled into the Weddell Sea along the western continental shelf break until they reached the region of the Filchner Trough outflow. Here the bathymetry consists of canyons and ridges which support the intensive mixing between the warm saline waters of the Weddell Gyre and the very cold outflow waters with Ice Shelf water ingredients at the Antarctic Slope Front. Another five data sets were shorter then 40 days, and excluded from analyses (doi:10.1594/PANGAEA.231568, doi:10.1594/PANGAEA.231576, doi:10.1594/PANGAEA.231572, doi:10.1594/PANGAEA.231577, doi:10.1594/PANGAEA.264710). A computer animation was developed to visualize the animal movements in relation to the extent and concentration of sea ice (doi:10.1594/PANGAEA.509404). The need for re-instrumentation of adult males from King George Island is highlighted to investigate whether males continue to travel to similar areas and to obtain higher resolution data.

Dive depth and dive duration data of subadult and adult, male and female southern elephant seals from Marion Island between 2004 and 2008 with links to datasets

Although numerous studies have addressed the migration and dive behaviour of southern elephant seals (Mirounga leonina), questions remain about their habitat use in the marine environment. We report on the vertical use of the water column in the species and the potential lifetime implications for southern elephant seals from Marion Island. Long-term mark-resight data were used to complement vertical habitat use for 35 known individuals tagged with satellite-relay data loggers, resulting in cumulative depth use extrapolated for each individual over its estimated lifespan. Seals spent on average 77.59% of their lives diving at sea, 7.06% at the sea surface, and 15.35% hauled out on land. Some segregation was observed in maximum dive depths and depth use between male and female animals-males evidently being physiologically more capable of exploiting increased depths. Females and males spent 86.98 and 80.89% of their lives at sea, respectively. While at sea, all animals spent more time between 300 and 400 m depth, than any other depth category. Males and females spent comparable percentages of their lifetimes below 100 m depth (males: 65.54%; females: 68.92%), though males spent 8.98% of their lives at depths in excess of 700 m, compared to females' 1.84% at such depths. Adult males often performed benthic dives in excess of 2,000 m, including the deepest known recorded dive of any air-breathing vertebrate (>2,133 m). Our results provide a close approximation of vertical habitat use by southern elephant seals, extrapolated over their lifespans, and we discuss some physiological and developmental implications of their variable depth use.